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Disease on EC 3.2.1.22 - alpha-galactosidase and Organism(s) Homo sapiens

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Abortion, Spontaneous
Trisomy recurrence: a reconsideration based on North American data.
Adenocarcinoma
Alteration in glycosidases from well-differentiated colorectal adenocarcinoma of rat.
AIDS-Associated Nephropathy
Molecular therapy for renal diseases.
alpha-galactosidase deficiency
A metabolomic study reveals novel plasma lyso-gb(3) analogs as fabry disease biomarkers.
Ability of Lactobacillus fermentum to overcome host alpha-galactosidase deficiency, as evidenced by reduction of hydrogen excretion in rats consuming soya alpha-galacto-oligosaccharides.
Adipocytes participate in storage in alpha-galactosidase deficiency (Fabry disease).
Agents for the treatment of glycosphingolipid storage disorders.
Alpha-galactosidase A deficiency (Fabry's disease) in a black Zimbabwean.
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency.
alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.
Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation.
Analysis of placental tissue in Fabry disease with and without enzyme replacement therapy.
Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.
Anderson-Fabry disease--family linkage studies using two polymorphic X-linked DNA probes.
Anderson-Fabry's disease: alpha-galactosidase deficiency.
Anderson-Fabry's disease: neuropathological and neurochemical investigation.
Angiokeratoma corporis diffusum (Anderson-Fabry's disease): a case report.
Angiokeratoma: Decision Making Methodology for the Diagnosis of Fabry Disease.
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.
Atypical Fabry's disease. An oligosymptomatic variant.
Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice.
Belgian Fabry study: prevalence of fabry disease in a cohort of 1000 young patients with cerebrovascular disease.
Bilateral femoral head and distal tibial osteonecrosis in a patient with Fabry disease.
Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status.
Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency).
Cardiac abnormalities in Anderson-Fabry disease and Fabry's cardiomyopathy.
Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition.
Cardiac Microvascular Pathology in Fabry Disease. Evaluation of Endomyocardial Biopsies Before and After Enzyme Replacement Therapy.
Cerebral hemorrhage in Fabry's disease.
Cerebrovascular complications of Fabry's disease.
Characteristics of Vascular Phenotype in Fabry Patients.
Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease.
Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development.
Corneal alpha-galactosidase deficiency in macular corneal dystrophy.
Coronary artery bypass graft in a patient with Fabry's disease.
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.
Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.
Demographic characterization of Brazilian patients enrolled in the Fabry Registry.
Diffuse structural and metabolic brain changes in Fabry disease.
Disease manifestations and X inactivation in heterozygous females with Fabry disease.
Early detection of Fabry cardiomyopathy by tissue Doppler imaging.
Early therapeutic intervention in females with Fabry disease?
Electroneuromyographic Features in Fabry Disease: A Retrospective Review.
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.
Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry Registry.
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Fabry's disease: alpha-galactosidase deficiency.
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males.
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.
Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients.
High incidence of later-onset fabry disease revealed by newborn screening.
Hormonal profile and fertility in patients with Anderson-Fabry disease.
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA).
Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease.
Inner ear pathology of alpha-galactosidase A deficient mice, a model of Fabry disease.
Investigation of the alpha-galactosidase deficiency in Fabry's disease using antibodies against the purified enzyme.
Lipid profile in adult patients with Fabry disease - Ten-year follow up.
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.
Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients.
Magnetic Resonance Image Findings in 5 Young Patients With Fabry Disease.
Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease.
Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.
Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors.
Pathophysiology and assessment of neuropathic pain in Fabry disease.
Persistent Alpha-galactosidase A Deficiency After Simultaneous Liver-kidney Transplantation in a Patient With Fabry Disease.
Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response.
Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi.
Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.
Quantitative analysis of cerebral vasculopathy in patients with Fabry disease.
Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit.
Reduction of plasma glycosphingolipid levels has no impact on atherosclerosis in apolipoprotein E-null mice.
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease.
Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).
Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers.
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.
The Fabry cardiomyopathy - diagnostic approach and current treatment.
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.
Ventricular fibrillation refractory to automatic internal cardiac defibrillator in Fabry's disease. Review of cardiovascular manifestations.
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
[Combined heart and kidney transplantation in Fabry's disease: Long-term outcomes in two patients].
[Diagnosis of Fabry disease: usefulness of the clinical investigation].
[Effect of alpha-galactosidase A deficiency on FV leiden fibrin deposition and thrombosis in mice]
[Effect of renin-angiotensin system in Fabry disease associated proteinuria]
[Fabry disease. Clinical and genetic aspects. Therapeutic perspectives]
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects]
[Fabry's disease and hypoparathyroidism]
[Fabry's disease with malocclusion and acromegalic-appearance: clinical and electromicroscopic studies (author's transl)]
[Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family]
[Stroke and cornea verticillata revealing Fabry's disease in a female].
[The anesthetic management of a patient with Fabry's disease]
[The prevalence of Fabry's disease among male patients on hemodialysis in Lithuania (A screening study).]
[Vestibular and cochlear manifestations in Fabry's disease].
Alzheimer Disease
Altered Blood Levels of Anti-Gal Antibodies in Alzheimer's Disease: A New Clue to Pathogenesis?
Anaphylaxis
A BULL IN A PILL SHOP: ALPHA-GAL ALLERGY COMPLICATING TREATMENT OPTIONS FOR POSTPROCEDURAL HYPOTHYROIDISM.
A Peculiar Cause of Anaphylaxis: No More steak? : The Journey to Discovery of a Newly Recognized Allergy to Galactose-alpha-1,3-galactose Found in Mammalian Meat.
Allergic Reactions and Immunity in Response to Tick Salivary Biogenic Substances and Red Meat Consumption in the Zebrafish Model.
Alpha-gal allergy after a tick bite in Austria.
Alpha-Gal Allergy as a Cause of Intestinal Symptoms in a Gastroenterology Community Practice.
Alpha-gal anaphylaxis: the first case report in Italy.
Alpha-Gal: A Delayed Onset of Anaphylaxis and Uncovering the Cause.
Anaphylactic reactions to oligosaccharides in red meat: a syndrome in evolution.
Anaphylaxis after vaccination in a pediatric patient: further implicating alpha-gal allergy.
Anaphylaxis after zoster vaccine: Implicating alpha-gal allergy as a possible mechanism.
Anaphylaxis to medications containing meat byproducts in an alpha-gal sensitized individual.
Anaphylaxis to the carbohydrate side chain alpha-gal.
Ascaris lumbricoides and ticks associated with sensitization to galactose ?1,3-galactose and elicitation of the alpha-gal syndrome.
Association between lone star tick bites and increased alpha-gal sensitization: evidence from a prospective cohort of outdoor workers.
Corrigendum to "Fatal anaphylaxis due to alpha-gal syndrome after initial cetuximab administration: The first forensic case report" [Legal Med. 51 (2021) 101878].
Delayed Anaphylaxis Involving IgE to Galactose-alpha-1,3-galactose.
Delayed anaphylaxis to alpha-gal, an oligosaccharide in mammalian meat.
Delayed Anaphylaxis to Mammalian Meat: A Fascinating Disease and Captivating Story.
Delayed anaphylaxis, angioedema, or urticaria after consumption of red meat in patients with IgE antibodies specific for galactose-alpha-1,3-galactose.
Delayed urticaria or anaphylaxis after consumption of red meat with evidence of alpha-gal sensitisation.
Diagnosis of Life-Threatening Alpha-Gal Food Allergy Appears to Be Patient Driven.
Emergency medicine updates: Anaphylaxis.
Fatal anaphylaxis due to alpha-gal syndrome after initial cetuximab administration: The first forensic case report.
Galactose-?-1,3-galactose (alpha-gal) allergy: first pediatric case in a series of patients in Spain.
Identification of alpha-gal sensitivity in patients with a diagnosis of idiopathic anaphylaxis.
IgE antibodies to alpha-gal in the general adult population: relationship with tick bites, atopy, and cat ownership.
IgE mediated food allergy throughout the life.
Ingestion of mammalian meat and alpha-gal allergy: Clinical relevance in primary care.
Isolated Gastrointestinal Alpha-gal Meat Allergy Is a Cause for Gastrointestinal Distress Without Anaphylaxis.
Nationwide pharmacovigilance data for cetuximab-induced anaphylaxis and predictive model validation using prospective specific IgE detection.
Near-fatal anaphylaxis with Kounis syndrome caused by Argas reflexus bite: a case report.
Predictive values of alpha-gal IgE levels and alpha-gal IgE: Total IgE ratio and oral food challenge-proven meat allergy in a population with a high prevalence of reported red meat allergy.
Red meat desensitization in a child with delayed anaphylaxis due to alpha-Gal allergy.
Safety of Intravenous Heparin for Cardiac Surgery in Patients With Alpha-Gal Syndrome.
Successful intravenous heparin administration during coronary revascularization surgery in a patient with alpha-gal anaphylaxis history.
The alpha-gal story: Lessons learned from connecting the dots.
The History of Carbohydrates in Type I Allergy.
Vaccination with Alpha-Gal Protects Against Mycobacterial Infection in the Zebrafish Model of Tuberculosis.
[Alpha-Gal-associated delayed red meat anaphylaxis as an occupational disease].
Anemia
Decreased urinary excretion of beta-glucuronidase in sickle cell anemia in Nigeria.
Drug evaluation: deferitrin (GT-56-252; NaHBED) for iron overload disorders.
Drug evaluation: Deferitrin for iron overload disorders.
Imiglucerase and its use for the treatment of Gaucher's disease.
Anemia, Sickle Cell
Decreased urinary excretion of beta-glucuronidase in sickle cell anemia in Nigeria.
Angioedema
Delayed immediate-type hypersensitivity to red meat and innards: current insights into a novel disease entity.
[Alpha-Gal-associated delayed red meat anaphylaxis as an occupational disease].
Angioedemas, Hereditary
Ecallantide (Dyax/Genzyme).
Angiokeratoma
Anderson-Fabry disease: a multiorgan disease.
Angiocheratoma corporis diffusum with normal enzyme activities.
Angiokeratoma: Decision Making Methodology for the Diagnosis of Fabry Disease.
Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement.
Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy.
Cutaneous manifestations of fucosidosis.
Fabry disease. A case report.
Fabry disease: enzyme replacement therapy.
Fabry disease: recognition and management of cutaneous manifestations.
Generalized anhidrosis associated with Fabry's disease.
Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.
Later-Onset Fabry Disease: An Adult Variant Presenting With the Cramp-Fasciculation Syndrome.
[A case of acroparesthesias, asthenia and fever. A new mutation in Fabry's disease].
[A case of Fabry's disease with chronic renal failure]
[Anderson-Fabry's disease: diagnostic problems, therapeutic relevance, and clinical experience in the treatment of the disease with enzyme replacement therapy in nephropathic patients]
[Fabry disease].
[Heterozygous Fabry's disease. Case report with electron microscopic studies]
[Ultrastructural changes in the skin of patients with Fabry's angiokeratoma]
Anthrax
Gateways to clinical trials.
Arrhythmias, Cardiac
Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease.
Arthritis
Clinical characteristics of patients with alpha-galactosidase A gene variants in a German multicentre cohort of early undifferentiated arthritis.
Summary of the OA biomarkers workshop 2010 - genetics and genomics: new targets in OA.
[Hydrolytic enzymes in biological fluids and skeletal muscle of rats with adjuvant arthritis]
arylsulfatase (type i) deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Asthma
Galactose-alpha-1,3-galactose Specific IgE is Associated with Anaphylaxis but not Asthma.
Atherosclerosis
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency.
Decreased nitric oxide bioavailability in a mouse model of Fabry disease.
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males.
Reduction of plasma glycosphingolipid levels has no impact on atherosclerosis in apolipoprotein E-null mice.
beta-glucosidase deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
beta-Thalassemia
Drug evaluation: deferitrin (GT-56-252; NaHBED) for iron overload disorders.
Drug evaluation: Deferitrin for iron overload disorders.
Breast Neoplasms
The level of IgG antibodies reactive to TF, Tn and alpha-Gal polyacrylamide-glycoconjugates in breast cancer patients: relation to survival.
Bronchial Spasm
Alpha-Gal Allergy as a Cause of Intestinal Symptoms in a Gastroenterology Community Practice.
Bronchopulmonary Dysplasia
Lysosomal enzymes in preterm infants with bronchopulmonary dysplasia: a potential diagnostic marker.
Carcinogenesis
Multiple forms of alpha-galactosidase of the mouse and their use as a cell marker in tumorigenesis.
Carcinoma
Expression of alpha-gal epitopes on ovarian carcinoma membranes to be used as a novel autologous tumor vaccine.
Increased serum alpha-L-fucosidase and beta-N-acetylglucosaminidase activities in diabetic, cirrhotic and gastric cancer patients.
Pancreatic carcinoma-specific immunotherapy using synthesised alpha-galactosyl epitope-activated immune responders: findings from a pilot study.
Synthesis of alpha-gal epitopes (Galalpha1-3Galbeta1-4GlcNAc-R) on human tumor cells by recombinant alpha1,3galactosyltransferase produced in Pichia pastoris.
Carcinoma, Ehrlich Tumor
Glycosidases of Ehrlich ascites tumor cells and ascitic fluid--purification and substrate specificity of alpha-N-acetylgalactosaminidase and alpha-galactosidase: comparison with coffee bean alpha-galactosidase.
Carcinoma, Hepatocellular
Serum and host liver activities of glycosidases and sialyltransferases in animals bearing transplantable tumors.
Subchromosomal localization and order of GLA, PGK1, HPRT, and G6PD loci on the X chromosome of the American mink (Mustela vison).
Cardiomegaly
Cardiac abnormalities in Anderson-Fabry disease and Fabry's cardiomyopathy.
Fabry disease: overall effects of agalsidase alfa treatment.
Improvement of cardiac hypertrophy and ventricular function in a man with Fabry disease by treatment with recombinant alpha-galactosidase A.
Cardiomyopathies
Cardiac abnormalities in Anderson-Fabry disease and Fabry's cardiomyopathy.
Cardiovascular manifestations in Fabry's disease. A high incidence of mitral valve prolapse in hemizygotes and heterozygotes.
Early detection of Fabry cardiomyopathy by tissue Doppler imaging.
Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment.
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa.
Enzyme replacement therapy of Fabry disease.
Fabry disease - Vascular manifestations.
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.
Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment.
Phospholipid storage in the myocardium of a unique Japanese case of idiopathic cardiomyopathy.
Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.
Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease.
[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)]
[Fabry disease (alpha-galactosidase deficiency)]
[Hearing loss in patients with Fabry disease]
Cardiomyopathy, Hypertrophic
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
Effect of agalsidase alfa replacement therapy on fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis.
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa.
Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women.
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A.
Is left ventricular hypertrabeculation/ noncompaction a cardiac manifestation of Fabry's disease?
[Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy]
Cardiovascular Diseases
CardioPulse Articles * Focused Update of the ESC Guidelines on device therapy in heart failure * ESC recommendations for individual certification and institutional cardiovascular magnetic resonance accreditation, in Europe * The final, Climbing the academic ladder in cardiology: USA * There are two different career tracks for academic medicine in the USA * Company success: Genzyme * Genzyme's research in cardiovascular disease, putting rare conditions on centre stage * Towards individualized preventive therapy.
Cataract
Considerations for cataract surgery: alpha-gal allergy.
Cerebellar Ataxia
[A case of chronically progressed peripheral neuropathy, spastic paraplegia, cerebellar ataxia and dementia associated with decreased alpha-galactosidase activity]
Cerebral Infarction
Fabry's disease presenting as stroke in a young female.
Cerebrovascular Disorders
Belgian Fabry study: prevalence of fabry disease in a cohort of 1000 young patients with cerebrovascular disease.
Enzyme replacement therapy of Fabry disease.
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.
Selective arterial distribution of cerebral hyperperfusion in Fabry disease.
Charcot-Marie-Tooth Disease
New treatments for denervating diseases.
Chickenpox
Gelatin-Containing Vaccines for Varicella, Zoster, Measles, Mumps, and Rubella Induce Basophil Activation in Patients with Alpha-Gal Syndrome.
[Seroprevalence of antibodies against measles, rubella, mumps and varicella among school children in Madrid]
Colic
Delayed Anaphylaxis to Mammalian Meat: A Fascinating Disease and Captivating Story.
Colorectal Neoplasms
Sodium hyaluronate-based bioresorbable membrane (Seprafilm) reduced early postoperative intestinal obstruction after lower abdominal surgery for colorectal cancer: the preliminary report.
Communicable Diseases
Emerging therapies in the treatment of Clostridium difficile-associated disease.
Corneal Dystrophies, Hereditary
Corneal alpha-galactosidase deficiency in macular corneal dystrophy.
Later-Onset Fabry Disease: An Adult Variant Presenting With the Cramp-Fasciculation Syndrome.
Corneal Opacity
The co-existence of Fabry and celiac diseases: a case report.
[Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy]
Coronary Artery Disease
Speculations on red meat allergy due to Alpha-Gal; its connection to coronary artery disease, suggested dietary guidance and allergy testing.
Coronary Disease
A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.
Cough
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.
Cystic Fibrosis
Acid hydrolases in sera and plasma from patients with cystic fibrosis.
CpG-free plasmid expression cassettes for cystic fibrosis gene therapy.
Expanded carrier screening in gamete donors of Venezuela.
Genzyme Genetics Cystic Fibrosis Mutation Analysis Now Tests for 97 mutations.
Technology evaluation: cystic fibrosis therapy, Genzyme.
Cystinosis
[Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood].
Dementia
[A case of chronically progressed peripheral neuropathy, spastic paraplegia, cerebellar ataxia and dementia associated with decreased alpha-galactosidase activity]
Diabetes Mellitus
Increased serum alpha-L-fucosidase and beta-N-acetylglucosaminidase activities in diabetic, cirrhotic and gastric cancer patients.
Diabetic Nephropathies
Molecular therapy for renal diseases.
Drug Hypersensitivity
Alpha-gal syndrome: An emerging cause of food and drug allergy.
Dyspnea
Fabry disease with aortic regurgitation.
Echinococcosis
Structural characterization of the N-glycans from Echinococcus granulosus hydatid cyst membrane and protoscoleces.
Endocarditis
Enzyme production by lactobacilli and the potential link with infective endocarditis.
Exanthema
Lone Star Ticks (Amblyomma americanum):: An Emerging Threat in Delaware.
[A case of acroparesthesias, asthenia and fever. A new mutation in Fabry's disease].
Fabry Disease
4-Phenylbutyrate rescues trafficking incompetent mutant alpha-galactosidase A without restoring its functionality.
A 3' splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease.
A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.
A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease.
A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.
A case of fabry cardiomyopathy.
A Case of Fabry Disease with Pacemaker Implantation as the Initial Event.
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
A case of Fabry's disease.
A case of minimal change disease in a Fabry patient.
A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.
A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene.
A detailed pathologic examination of heart tissue from three older patients with Anderson-Fabry disease on enzyme replacement therapy.
A diagnosis of Fabry gastrointestinal disease by chance: a case report.
A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, alpha-galactosidase A.
A heterozygous female with Fabry disease due to a novel alpha-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.
A metabolomic study reveals novel plasma lyso-gb(3) analogs as fabry disease biomarkers.
A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
A modified lipid composition in Fabry disease leads to an intracellular block of the detergent-resistant membrane-associated dipeptidyl peptidase IV.
A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders.
A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.
A novel A97P amino acid substitution in alpha-galactosidase A leads to a classical Fabry disease with cardiac manifestations.
A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency.
A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease.
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies.
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease.
A randomised controlled trial evaluating arrhythmia burden, risk of sudden cardiac death and stroke in patients with Fabry disease: the role of implantable loop recorders (RaILRoAD) compared with current standard practice.
A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease.
A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation.
A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease.
A search for Fabry disease among male end-stage renal disease patients in Lebanon and a review of the literature.
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts.
A study on serum IgE and clinical symptomatology of atopy in patients suffering from the lysosomal storage disorder Fabry disease.
A successful approach for the detection of Fabry patients in Argentina.
A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder.
A thermodynamic assay to test pharmacological chaperones for Fabry disease.
AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice.
AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction.
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease.
Acroparesthesia in a female: diagnostic dilemma.
Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.
Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice.
Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease.
Advanced Anderson-Fabry disease presenting with left ventricular apical aneurysm and ventricular tachycardia.
Advances in the management of Anderson-Fabry disease: enzyme replacement therapy.
Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease.
Agalsidase alfa (Replagal) in the treatment of Anderson-Fabry disease.
Agalsidase alfa and agalsidase beta in the treatment of Fabry disease: does the dose really matter?
Agalsidase alfa and kidney dysfunction in Fabry disease.
Agalsidase alfa for enzyme-replacement therapy in Fabry disease.
Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety.
Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study.
Agalsidase alfa slows the decline in renal function in patients with Fabry disease.
Agalsidase alfa therapy for Fabry disease.
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.
Agalsidase alfa--a preparation for enzyme replacement therapy in Anderson-Fabry disease.
Agalsidase alfa: a review of its use in the management of fabry disease.
Agalsidase alfa: specific treatment for Fabry disease.
Agalsidase Beta: a review of its use in the management of Fabry disease.
Agents for the treatment of glycosphingolipid storage disorders.
Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice.
Alpha-galactosidase A activity levels in Turkish male hemodialysis patients.
Alpha-galactosidase A deficiency (Fabry's disease) in a black Zimbabwean.
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency.
alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.
Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation.
alpha-Galactosidase A deficient mice: a model of Fabry disease.
alpha-galactosidase A from human placenta. Stability and subunit size.
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.
Alpha-galactosidase A-Tat fusion enhances storage reduction in hearts and kidneys of Fabry mice.
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease.
Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta.
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
An Atypical Cardiac Manifestation of Fabry Disease from a Novel Pathological Variant on the GLA Gene.
An easy and sensitive method for determination of globotriaosylceramide (Gb3) from urinary sediment: utility for Fabry disease diagnosis and treatment monitoring.
An in vitro model of Fabry disease.
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy.
Analysis of placental tissue in Fabry disease with and without enzyme replacement therapy.
Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age.
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.
Anderson-Fabry disease and the heart.
Anderson-Fabry disease in heart failure.
Anderson-Fabry disease--family linkage studies using two polymorphic X-linked DNA probes.
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.
Anderson-Fabry disease: developments in diagnosis and treatment.
Angiocheratoma corporis diffusum with normal enzyme activities.
Angiokeratoma corporis diffusum (Anderson-Fabry's disease): a case report.
Angiokeratoma corporis diffusum (Fabry disease).
Angiokeratoma: Decision Making Methodology for the Diagnosis of Fabry Disease.
Angiokeratomas of Fabry successfully treated with intense pulsed light.
Anti-BlyS antibody reduces the immune reaction against enzyme and enhances the efficacy of enzyme replacement therapy in Fabry disease model mice.
Anti-CD25 targeted killing of bicistronically transduced cells: a novel safety mechanism against retroviral genotoxicity.
Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment.
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.
Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease.
Assessing antibodies to alpha-galactosidase A in fabry disease.
Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention.
Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.
Association of renal ectopia with Fabry's disease in 3 patients.
Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease.
Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement.
Atypical Distribution of Late Gadolinium Enhancement of the Left Ventricle on Cardiac Magnetic Resonance in Classical Anderson-Fabry Disease.
Atypical Fabry's disease presenting with cholesterol crystal embolization.
Atypical Fabry's disease. An oligosymptomatic variant.
Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females.
Autonomic skin responses in females with Fabry disease.
Autophagosome maturation is impaired in Fabry disease.
Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice.
Avascular necrosis of the femoral head in a patient with Fabry's disease: identification of ceramide trihexoside in the bone by delayed-extraction matrix-assisted laser desorption ionization-time-of-flight mass spectrometry.
Awareness of Fabry disease among rheumatologists-current status and perspectives.
B.C.P. Jansen Institute, University of Amsterdam, Amsterdam, The Netherlands.
Bilateral femoral head and distal tibial osteonecrosis in a patient with Fabry disease.
Biochemical basis of Fabry disease with emphasis on mitochondrial function and protein trafficking.
Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency.
Biological activities of the nortropane alkaloid, calystegine B2, and analogs: structure-function relationships.
Biological properties of D- and L-1-deoxyazasugars.
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now.
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases.
Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status.
Bone and joint involvement in Fabry disease.
Can we use statins to prevent stroke in Fabry disease?
Cardiac abnormalities in Anderson-Fabry disease and Fabry's cardiomyopathy.
Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition.
Cardiac evaluation of myocardial involvement in Anderson-Fabry disease by cardiac magnetic resonance imaging: a study of five patients.
Cardiac involvement in Fabry disease.
Cardiac involvement in Fabry's disease.
Cardiac manifestations in Fabry disease.
Cardiac manifestations of Anderson-Fabry disease in children and adolescents.
Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.
Cardiac Microvascular Pathology in Fabry Disease. Evaluation of Endomyocardial Biopsies Before and After Enzyme Replacement Therapy.
Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease.
Cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy.
Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.
Cardiopulmonary exercise testing in fabry disease.
Cardiopulmonary involvement in Fabry's disease.
Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.
Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles.
Case report: is low ?-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?
Case report: long-term outcome post-heart transplantation in a woman with Fabry's disease.
Catalytic mechanism of human alpha-galactosidase.
Caveolin-associated accumulation of globotriaosylceramide in the vascular endothelium of alpha-galactosidase A null mice.
Cell Transplantation Combined with Recombinant Collagen Peptides for the Treatment of Fabry Disease.
Cellular and tissue distribution of intravenously administered agalsidase alfa.
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study.
Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy.
Cerebral hemorrhage in Fabry's disease.
Cerebrovascular complications of Fabry's disease.
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
Characteristics of Vascular Phenotype in Fabry Patients.
Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease.
Characterization of alpha-galactosidase isoenzymes in normal and Fabry human-Chinese Hamster somatic cell hybrids.
Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.
Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer.
Characterization of glycosylated and catalytically active recombinant human alpha-galactosidase A using a baculovirus vector.
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
Chemical diagnosis of Fabry's disease by fluorometric assay and fast atom bombardment/mass spectrometry.
Chiari type I malformation in four unrelated patients affected with Fabry disease.
Chloroquine-induced lipidosis mimicking Fabry disease.
Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease: case report and review of the literature.
Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease.
Circulating alpha-galactosidase A derived from transduced bone marrow cells: relevance for corrective gene transfer for Fabry disease.
Circulating microRNAs in Fabry Disease.
Clearing of globotriaosylceramide from endothelial vessels of ocular conjunctiva in patients with Fabry disease treated with agalsidase alfa.
Clinical benefit in Fabry patients given enzyme replacement therapy--a case series.
Clinical benefit of enzyme replacement therapy in Fabry disease.
Clinical features and genetic analysis of a Chinese kindred with Fabry's disease.
Clinical features of and recent advances in therapy for Fabry disease.
Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.
Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.
Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa.
Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.
Combined heart and kidney transplantation in a patient with Fabry disease in the enzyme replacement therapy era.
Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease.
Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.
Comparing the alpha-galactosidase A biochemical properties from healthy individuals and Fabry disease patients.
Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma.
Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice.
Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development.
Conjunctival lymphangiectasia associated with classic Fabry disease.
Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion.
Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype-phenotype expression.
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Coronary artery bypass graft in a patient with Fabry's disease.
Correction in trans for Fabry disease: expression, secretion and uptake of alpha-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector.
Correction of cardiac abnormalities in fabry mice by direct intraventricular injection of a recombinant lentiviral vector that engineers expression of alpha-galactosidase A.
Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer.
Correction of the enzymic defect in cultured fibroblasts from patients with Fabry's disease: treatment with purified alpha-galactosidase from ficin.
Corrective effect on Fabry mice of yeast recombinant human alpha-galactosidase with N-linked sugar chains suitable for lysosomal delivery.
CORRIGENDUM: Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).
Crystallization and preliminary X-ray analysis of human alpha-galactosidase A complex.
Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases.
Cutaneous manifestations of fucosidosis.
Cytoplasmic inclusions of Fabry's disease. Ultrastructural demonstration of their presence in urine sediment.
Danon disease: Further clinical and molecular heterogeneity.
Decline of plasma brain natriuretic peptide during enzyme replacement therapy in a female patient with heterozygous Fabry's disease.
Decreased nitric oxide bioavailability in a mouse model of Fabry disease.
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.
Demographic characterization of Brazilian patients enrolled in the Fabry Registry.
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
Detection of alpha-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography.
Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease.
Detection of preclinical left ventricular dysfunction in Fabry disease: the contribution of tissue Doppler.
Determination of globotriaosylceramide in plasma and urine by mass spectrometry.
Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease.
Development of a model system for neuronal dysfunction in Fabry disease.
Diagnosis of Fabry Disease via Analysis of Family History.
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.
Diffuse structural and metabolic brain changes in Fabry disease.
Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients.
Disease manifestations and X inactivation in heterozygous females with Fabry disease.
Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice.
Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson-Fabry disease: a case series.
Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy.
Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey.
Early detection of Fabry cardiomyopathy by tissue Doppler imaging.
Early therapeutic intervention in females with Fabry disease?
Echocardiographic abnormalities and disease severity in Fabry's disease.
Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.
Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa.
Effect of acid-base changes on urinary hydrolases in Fabry's disease after renal transplantation.
Effect of agalsidase alfa replacement therapy on fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis.
Effect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry disease.
Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience.
Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper.
Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment.
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
Effects of Baseline Left Ventricular Hypertrophy and Decreased Renal Function on Cardiovascular and Renal Outcomes in Patients with Fabry Disease Treated with Agalsidase Alfa: A Fabry Outcome Survey Study.
Effects of enzyme replacement therapy in patients with Anderson-Fabry disease: a prospective long term cardiac magnetic resonance imaging study.
Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa.
Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease: preliminary data.
Effects of Orally Delivered Alpha-Galactosidase A on Gastrointestinal Symptoms in Patients With Fabry Disease.
Effects of switching from agalsidase Beta to agalsidase alfa in 10 patients with anderson-fabry disease.
Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients.
Efficacy of enzyme replacement therapy in Fabry disease.
Efficient and rapid purification of recombinant human alpha-galactosidase A by affinity column chromatography.
Efficient correction of Fabry mice and patient cells mediated by lentiviral transduction of hematopoietic stem/progenitor cells.
Electrocardiographic signs of hypertrophy in fabry disease-associated hypertrophic cardiomyopathy.
Electroneuromyographic Features in Fabry Disease: A Retrospective Review.
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement.
Elevated CNS average diffusion constant in Fabry disease.
Elevated globotriaosylsphingosine is a hallmark of Fabry disease.
Emerging strategies for the treatment of hereditary metabolic storage disorders.
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.
Endocytosis of lysosomal alpha-galactosidase A by cultured fibroblasts from patients with Fabry disease.
Endocytotic internalization of alpha-2-macroglobulin: alpha-galactosidase conjugate by cultured fibroblasts derived from Fabry hemizygote.
Endothelial markers and homocysteine in patients with classic Fabry disease.
Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease.
Enhanced endothelium-dependent vasodilation in Fabry disease.
Enzymatic and functional correction along with long-term enzyme secretion from transduced bone marrow hematopoietic stem/progenitor and stromal cells derived from patients with Fabry disease.
Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector.
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.
Enzyme replacement and beyond.
Enzyme replacement in Fabry disease: treatment of cultured skin fibroblasts with a purified alpha-galactosidase from ficin.
Enzyme replacement in Fabry endothelial cells and fibroblasts: uptake experiments and electron microscopical studies.
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease.
Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease.
Enzyme replacement therapy and intraepidermal innervation density in Fabry disease.
Enzyme replacement therapy and renal function in 201 patients with Fabry disease.
Enzyme Replacement Therapy Clears Gb3 Deposits from a Podocyte Cell Culture Model of Fabry Disease but Fails to Restore Altered Cellular Signaling.
Enzyme replacement therapy for Anderson-Fabry disease.
Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies.
Enzyme replacement therapy for Fabry disease, an inherited nephropathy.
Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis.
Enzyme replacement therapy for Fabry disease: a systematic review of available evidence.
Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval.
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.
Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.
Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha.
Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement.
Enzyme replacement therapy in Fabry disease.
Enzyme replacement therapy in Fabry disease: a randomized controlled trial.
Enzyme replacement therapy in Fabry disease: clinical implications.
Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta.
Enzyme Replacement Therapy in Fabry Disease: Influence on Cardiac Manifestations.
Enzyme replacement therapy in Fabry's disease: recent advances and clinical applications.
Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study.
Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature.
Enzyme replacement therapy in patients with Fabry's disease.
Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series.
Enzyme replacement therapy of Fabry disease.
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.
Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease.
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data.
Enzyme replacement therapy with agalsidase alfa in pregnant women with Fabry disease.
Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease.
Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta.
Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.
Enzyme therapy in Fabry disease: severe adverse events associated with anti-agalsidase cross-reactive IgG antibodies.
Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease.
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease.
Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide.
Erratum to: Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment.
Establishment and characterization of Fabry disease endothelial cells with an extended lifespan.
Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease.
Evaluation of recombinant alpha-galactosidase A therapy for amelioration of the cardiovascular manifestations of Fabry disease: an important role for endomyocardial biopsy.
Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease.
Evolution of renal pathology in Fabry disease.
Expression and characterization of glycosylated and catalytically active recombinant human alpha-galactosidase A produced in Pichia pastoris.
Expression of genes and their responses to enzyme replacement therapy in a Fabry disease mouse model.
Fabry Cardiomyopathy: Current Treatment and Future Options.
Fabry disease - clinical manifestations and genetics.
Fabry disease - Vascular manifestations.
Fabry disease and cardiovascular involvement.
Fabry disease and the heart.
Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy.
Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model.
Fabry disease associated with multiple myeloma: a case report.
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.
Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa.
Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued.
Fabry disease exacerbates renal interstitial fibrosis after unilateral ureteral obstruction via impaired autophagy and enhanced apoptosis.
Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy.
Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5.
Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia.
Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.
Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry Registry.
Fabry Disease in children and response to enzyme replacement therapy: results from FOS - the Fabry Outcome Survey.
Fabry disease in children and the effects of enzyme replacement treatment.
Fabry disease in children: a federal screening programme in Russia.
Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report.
Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis.
Fabry disease in patients with hypertrophic cardiomyopathy (HCM).
Fabry disease in patients with migraine with aura.
Fabry disease in the era of enzyme replacement therapy: a renal perspective.
Fabry disease in two brothers with proteinuria: A case report and Fabry disease review?.
Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women.
Fabry disease mimicking multiple sclerosis.
Fabry Disease on Peritoneal Dialysis with Cardiac Involvement.
FABry Disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI): A new Fabry disease-specific gastrointestinal outcomes instrument.
Fabry Disease Prevalence in Renal Replacement Therapy in Turkey.
Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months.
Fabry disease with aortic regurgitation.
Fabry disease with cardiovascular manifestation in a patient with end-stage renal disease.
Fabry disease, enzyme replacement therapy and the significance of antibody responses.
Fabry disease--a metabolic disorder with a challenge for endocrinologists?
Fabry disease-what cardiologists can learn from the nephrologist: a narrative review.
Fabry disease.
Fabry disease. A case report.
Fabry disease. Classic hemizygote and residual alpha-galactosidase A activity.
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients.
Fabry disease: a morphologic study of 11 cases.
Fabry disease: a review of current management strategies.
Fabry disease: a review.
Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations.
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy.
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).
Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.
Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification.
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Fabry disease: diagnosis and treatment.
Fabry disease: diagnosis by alpha-galactosidase activities in tears.
Fabry disease: enzyme replacement therapy.
Fabry disease: focus on cardiac manifestations and molecular mechanisms.
Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement.
Fabry disease: Identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Fabry disease: immunocytochemical characterization of neuronal involvement.
Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.
Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.
Fabry disease: molecular diagnosis of hemizygotes and heterozygotes.
Fabry disease: molecular genetics of the inherited nephropathy.
Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.
Fabry disease: overall effects of agalsidase alfa treatment.
Fabry disease: perspectives of urinary proteomics.
Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice.
Fabry disease: raising awareness of the disease among physicians.
Fabry disease: recent advances in enzyme replacement therapy.
Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.
Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts.
Fabry disease: renal biopsy-proven cases from China.
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Fabry Disease: Treatment and diagnosis.
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Fabry disease: ultrastructural lectin histochemical analyses of lysosomal deposits.
Fabry disease: what the cardiologist should consider in non-cardiac screening, diagnosis, and management-narrative review.
Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed.
Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?
Fabry pedigree analysis: A successful program for targeted genetic approach.
Fabry's disease and cornea verticillata. A report of 3 cases.
Fabry's disease as a differential diagnosis of MS.
Fabry's disease in a black kindred.
Fabry's Disease Mimicking an Undifferentiated Connective Tissue Disease.
Fabry's disease presenting as stroke in a young female.
Fabry's disease presenting as ventricular tachycardia and left ventricular 'hypertrophy'.
Fabry's disease--a case report and review of literatures reported in Korea.
Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.
Fabry's disease.
Fabry's disease. A brief review in connection with a Scandinavian survey.
Fabry's disease. Report of the case diagnosed on the basis of routine ultrastructural examination of the renal biopsy.
Fabry's disease: a multidisciplinary disorder.
Fabry's disease: alpha-galactosidase deficiency.
Fabry's disease: An ultrastructural study of nerve biopsy.
Fabry's Disease: Case Series and Review of Literature.
Fabry's disease: clinical, pathologic and biochemical manifestations in two Chinese males.
Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes.
Fabry's disease: heterozygote detection by hair root analysis.
Fabry's disease: long-term study of a family.
Fabry's disease: normal alpha-galactosidase activity and urinary-sediment glycosphingolipid levels in two obligate heterozygotes.
Fabry's disease: report of a case.
Fabry-like laminated myelin body associated with IgA nephropathy.
Failure to correct the metabolic defect by renal allotransplantion in Fabry's disease.
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males.
Fast fingerprinting by MALDI-TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry disease.
Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing.
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes.
Fibrosis: a key feature of Fabry disease with potential therapeutic implications.
First phenotypic description of a female patient with c.610?T > C variant of GLA: a renal-predominant presentation of Fabry disease.
Five novel mutations in fourteen patients with Fabry Disease.
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.
Frequency of de novo mutations in Japanese patients with Fabry disease.
Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Functional and structural nerve fiber findings in heterozygote patients with Fabry disease.
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Functional studies of new GLA gene mutations leading to conformational Fabry disease.
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.
Gastroenterological complications of Anderson-Fabry disease.
Gastrointestinal involvement in Fabry disease. So important, yet often neglected.
Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy.
Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy.
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses.
Gene therapy for Fabry disease.
Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease.
Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708?G?>?C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene.
Genetic heterogeneity of alpha-galactosidase in fabry's disease.
Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.
Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.
Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients.
Genetics and Gene Therapy of Anderson-Fabry Disease.
Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach.
Genomic analysis of Brazilian patients with Fabry disease.
Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.
Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease.
Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy.
Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase.
Glycosphingolipids and kidney disease.
Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease.
Hearing improvement in patients with Fabry disease treated with agalsidase alfa.
Hearing loss in a family affected by Fabry disease.
Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy.
Hemizygous Fabry disease associated with IgA nephropathy: a case report.
Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.
Heterozygote detection in Fabry disease utilizing multiple enzyme activities.
High and sustained transgene expression in vivo from plasmid vectors containing a hybrid ubiquitin promoter.
High incidence of autoantibodies in Fabry disease patients.
High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.
High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease.
Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
Histologic and electron microscopy findings in myocardium of treated Fabry disease.
Histopathologic findings of cornea verticillata in a woman heterozygous for Fabry's disease.
Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction.
HIV-2 derived lentiviral vectors: gene transfer in Parkinson's and Fabry disease models in vitro.
Home infusion program for Fabry disease: experience with agalsidase alfa in Argentina.
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.
Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands.
Hormonal profile and fertility in patients with Anderson-Fabry disease.
Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.
Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation.
Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report.
Hyperbaric oxygen treatment restores sudden hearing loss in a patient with Fabry disease.
Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A.
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease.
Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA).
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
Imaging features of Fabry disease.
Immunoelectron-microscopic detection of globotriaosylceramide accumulated in the skin of patients with Fabry disease.
Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of Fabry disease patients.
Immunohistochemical characterization of transgenic mice highly expressing human lysosomal alpha-galactosidase.
Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease.
Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease.
Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes.
Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease.
Improved hearing with cochlear implantation in Fabry's disease.
Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study.
Improvement of cardiac hypertrophy and ventricular function in a man with Fabry disease by treatment with recombinant alpha-galactosidase A.
In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives.
In vitro study of encapsulation therapy for Fabry disease using genetically engineered CHO cell line.
In vivo drug-selectable markers in gene therapy.
Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model.
Increased globotriaosylceramide in familial dysautonomia.
Increased Serum Interleukin-6 and Tumor Necrosis Factor Alpha Levels in Fabry Disease: Correlation with Disease Burden.
Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease.
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease.
Inner ear involvement in Anderson-Fabry disease: long-term follow-up during enzyme replacement therapy.
Inner ear pathology of alpha-galactosidase A deficient mice, a model of Fabry disease.
Integrative Systems Biology Investigation of Fabry Disease.
Intravenous enzyme replacement therapy: better in home or hospital?
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
Investigation of the alpha-galactosidase deficiency in Fabry's disease using antibodies against the purified enzyme.
Is home-based therapy in Fabry disease the answer to compelling patients' needs during the COVID-19 pandemic? Survey results from the Polish FD Collaborative Group.
Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy.
Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.
Kidney Transplant in Fabry Disease: A Revision of the Literature.
Kidney transplantation and enzyme alpha-galactosidase A therapy in patient with Fabry disease: a case report.
Kidney transplantation in patients with Fabry disease.
Later-Onset Fabry Disease: An Adult Variant Presenting With the Cramp-Fasciculation Syndrome.
Lentivirus-mediated gene therapy for Fabry disease.
Letter: Diagnosis of Fabry's disease by tear alpha-galactosidase A.
Leukocyte perturbation associated with Fabry disease.
Limited effects of long-term enzyme replacement therapy on the cardiac conduction system in Fabry disease.
Lipid profile in adult patients with Fabry disease - Ten-year follow up.
Local and global cerebral blood flow and glucose utilization in the alpha-galactosidase A knockout mouse model of Fabry disease.
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.
Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.
Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease.
Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer.
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.
Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment.
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.
Long-term inhibition of glycosphingolipid accumulation in Fabry model mice by a single systemic injection of AAV1 vector in the neonatal period.
Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer.
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting.
Loss of electron-dense lamellar material from Fabry's disease fibroblasts after enzyme replacement.
Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients.
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.
Lysosomal leukocyte beta-D-glucuronidase during enzyme replacement therapy in Fabry disease.
Lysosomal storage diseases.
Macular Impairment in Fabry Disease: A Morpho-functional Assessment by Swept-Source OCT Angiography and Focal Electroretinography.
Magnetic Resonance Image Findings in 5 Young Patients With Fabry Disease.
Major cardiovascular adverse events in Fabry disease patients receiving agalsidase alfa.
Manifestations of Fabry disease in placental tissue.
Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy.
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.
Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.
Metabolic disorders characterized by angiokeratomas and neurologic dysfunction.
Methotrexate reduces antibody responses to recombinant human alpha-galactosidase A therapy in a mouse model of Fabry disease.
Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.
Migalastat Tissue Distribution: Extrapolation From Mice to Humans Using Pharmacokinetic Modeling and Comparison With Agalsidase Beta Tissue Distribution in Mice.
Misdiagnosis of multiple sclerosis in a female heterozygote with Fabry's disease.
Missense mutation in exon 2 of alpha-galactosidase A in a patient with Fabry disease.
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease.
Molecular interaction of imino sugars with human alpha-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease.
Molecular pathology of Fabry's disease. Physical and kinetic properties of alpha-galactosidase A in cultured human endothelial cells.
Molecular therapy for renal diseases.
Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide.
Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease.
Multidimensional analysis of clinical symptoms in patients with Fabry's disease.
Multidisciplinary approach to Fabry disease: from the eye of a neurologist.
Musculoskeletal manifestations of Fabry disease: A retrospective study.
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
Myocardial Alterations in the Murine Model of Fabry Disease Can Be Reversed by Enzyme Replacement Therapy.
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
Nailfold capillaroscopy: Specific features in Fabry disease.
Naked plasmid DNA-based alpha-galactosidase A gene transfer partially reduces systemic accumulation of globotriaosylceramide in Fabry mice.
Narrative review: Fabry disease.
Natural history of Fabry disease in females in the Fabry Outcome Survey.
Natural history of Fabry disease in males: preliminary observations.
Natural history of the cerebrovascular complications of Fabry disease.
Natural history of the respiratory involvement in Anderson-Fabry disease.
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey.
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.
Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy.
Neurological manifestations in Fabry's disease.
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease.
Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options.
Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy.
Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.
New insights in cardiac structural changes in patients with Fabry's disease.
New mutation in Fabry disease: c.448delG, first phenotypic description.
New mutations in the GLA gene in Brazilian families with Fabry disease.
New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease.
New treatments for denervating diseases.
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry.
Non-specific gastrointestinal features: Could it be Fabry disease?
Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases.
Nonsense mutation in exon 2 of the alpha-galactosidase A gene in a patient with Fabry disease.
Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease.
Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online.
Novel alpha-galactosidase A mutation in a female with recurrent strokes.
Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure.
Novel GLA T194A variant causes Fabry disease.
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.
Novel therapeutic targets for the treatment of Fabry disease.
Novel trinucleotide deletion in Fabry's disease.
Novel Urinary Lyso-Gb3-Related Biomarkers for Fabry Disease Targeted by Metabolomics.
Nuclear-targeted chimeric vector enhancing nonviral gene transfer into skeletal muscle of Fabry mice in vivo.
Ocular findings in Fabry disease in Colombian patients
Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey.
Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease.
Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.
On the diagnosis of Fabry's disease.
Oral and craniofacial findings in Fabry's disease: a report of 13 patients.
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active ?-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.
Oxidative stress biomarkers in Fabry disease: is there a room for them?
Pain related channels are differentially expressed in neuronal and non-neuronal cells of glabrous skin of fabry knockout male mice.
Paricalcitol as an Antiproteinuric Agent Can Result in the Deterioration of Renal and Heart Function in a Patient with Fabry Disease.
Parkinson's disease prevalence in Fabry disease: A survey study.
Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors.
Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing.
Pathologic endothelial response and impaired function of circulating angiogenic cells in patients with Fabry disease.
Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement.
Pathophysiology and assessment of neuropathic pain in Fabry disease.
Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients.
Patients with Fabry disease on dialysis in the United States.
Persistent Alpha-galactosidase A Deficiency After Simultaneous Liver-kidney Transplantation in a Patient With Fabry Disease.
Pharmacokinetics, safety, and tolerability following single-dose migalastat hydrochloride (GR181413A/AT1001) in healthy male Japanese subjects.
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.
Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies.
Phospholipid storage in the myocardium of a unique Japanese case of idiopathic cardiomyopathy.
Physical mapping shows close linkage between the alpha-galactosidase A gene (GLA) and the DXS178 locus.
Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy.
Plasma globotriaosylsphingosine as a biomarker of Fabry disease.
Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
Polarity of alpha-galactosidase A uptake by renal tubule cells.
Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response.
Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease.
Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease.
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information.
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.
Preselective gene therapy for Fabry disease.
Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy.
Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease.
Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey.
Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.
Prevalence of Fabry Disease in Young Patients with Cryptogenic Ischemic Stroke.
Prevalence of uncontrolled hypertension in patients with fabry disease.
Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family.
Priapism and Fabry disease: a case report.
Production in yeast of alpha-galactosidase A, a lysosomal enzyme applicable to enzyme replacement therapy for Fabry disease.
Production of Therapeutic Enzymes by Lentivirus Transgenesis.
Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report.
Progressive hearing loss in Fabry's disease: a case report.
Prompt Agalsidase Alfa Therapy Initiation is Associated with Improved Renal and Cardiovascular Outcomes in a Fabry Outcome Survey Analysis.
Properties of immobilized fig alpha-galactosidase and effect on ceramide-3 content of plasma from patients with Fabry's disease.
Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.
Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.
Pseudodeficiency of alpha-galactosidase A.
Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study.
Pulmonary involvement in Fabry disease.
Pulmonary involvement in Fabry disease: Overview and perspectives.
Purification and characterization of human alpha-galactosidase A expressed in insect cells using a baculovirus vector.
Quantitative analysis of cerebral vasculopathy in patients with Fabry disease.
Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit.
Quantitative dysmorphology assessment in Fabry disease.
Quantitative evaluation of sphingolipids using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard Practical application to cardiac valves from a patient with Fabry disease.
Rapid Clathrin-Mediated Uptake of Recombinant ?-Gal-A to Lysosome Activates Autophagy.
Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.
Rare presentation of Fabry disease as 'burnt-out' hypertrophic cardiomyopathy.
Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA.
Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults.
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.
Recurrent fever of unknown origin: An overlooked symptom of Fabry disease.
Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease.
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy.
Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation.
Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy.
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
Relationship of the multiple forms of human alpha-D-galactosidase and alpha-D-fucosidase in the normal and in Fabry's disease.
Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease.
Relief of Left Ventricular Outflow Obstruction by Cibenzoline in a Patient With Fabry's Disease-A Case Report.
Remarkable variability in renal disease in a large Slovenian family with Fabry disease.
Renal changes in heterozygous Fabry's disease--a family study.
Renal Complications of Fabry Disease.
Renal involvement in Anderson-Fabry disease.
Renal pathological changes in Fabry disease.
Renal transplantation in patients with Fabry disease.
Renal ultrastructural findings in Anderson-Fabry disease.
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease.
Residual activity of alpha-galactosidase A in Fabry's disease.
Retinal hyperreflective foci in Fabry disease.
Retroviral coexpression of a multidrug resistance gene (MDR1) and human alpha-galactosidase A for gene therapy of Fabry disease.
Retrovirus-mediated transfer of human alpha-galactosidase A gene to human CD34+ hematopoietic progenitor cells.
Rhythmic changes in Fabry disease: Inversion and non-oscillatory pattern in 6-sulfatoxymelatonin daily profile.
RIPK3 Contributes to Lyso-Gb3-Induced Podocyte Death.
Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
Safety and effectiveness of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: Post-marketing surveillance in Japan.
Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease.
Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease.
Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease.
Safety of agalsidase alfa in patients with Fabry disease under 7?years.
Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.
Screening for Fabry Disease in Young Strokes in the Australian Stroke Clinical Registry (AuSCR).
Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers.
Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.
Screening for pharmacological chaperones in Fabry disease.
Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task.
Selective arterial distribution of cerebral hyperperfusion in Fabry disease.
Sequence variations in the first exon of alpha-galactosidase A.
Sequencing and characterization of the porcine alpha-galactosidase A gene: towards the generation of a porcine model for Fabry disease.
Severe infusion reactions to fabry enzyme replacement therapy: rechallenge after tracheostomy.
Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease.
Significance of screening for Fabry disease among male dialysis patients.
Silicon nephropathy mimicking Fabry's disease.
Simple and efficient screening of patients with Fabry disease with high resolution melting.
Simultaneous multicystic kidney and Anderson-Fabry disease: 2 separate entities or same side of the coin.
Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.
Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.
Social-adaptive and psychological functioning of patients affected by Fabry disease.
Specific alpha-galactosidase inhibitors, N-methylcalystegines--structure/activity relationships of calystegines from Lycium chinense.
Spotlight on agalsidase beta in Fabry disease.
SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry disease.
Stroke and Chronic Kidney Disease in Fabry Disease.
Stroke and Fabry Disease: A Review of Literature.
Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry.
Strong increase of leukocyte apha-galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy.
Structural and functional changes in peripheral vasculature of Fabry patients.
Structural basis of Fabry disease.
Structural characterization of mutant alpha-galactosidases causing Fabry disease.
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.
Structure-function relationships in alpha-galactosidase A.
Subclinical optic neuropathy in Fabry disease.
Subfoveal choroidal neovascularization in a patient with Fabry's disease.
Successful desensitization with agalsidase alfa in 2 brothers with Fabry disease.
Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme(®)) to Agalsidase Alfa (Replagal (®)).
Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.
Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme.
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.
Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with Fabry disease in Latin America.
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data.
Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: a systematic review and meta-analysis of the literature.
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.
Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase.
Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.
Taming molecular flexibility to tackle rare diseases.
Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study.
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies.
The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients.
The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.
The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.
The co-existence of Fabry and celiac diseases: a case report.
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.
The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease.
The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy.
The Fabry cardiomyopathy - diagnostic approach and current treatment.
The fate of internalized alpha-2-macroglobulin: alpha-galactosidase conjugate in fibroblasts from Fabry's hemizygote.
The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
The M-mode echocardiogram in Fabry's disease.
The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease.
The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.
The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)--investigation of symptomatic and presymptomatic patients.
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease.
The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts.
The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease.
The properties of alpha-galactosidase remaining in kidney and liver of patients with Fabry's disease.
The pulvinar sign: frequency and clinical correlations in Fabry disease.
The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women.
The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature.
The Safety of Agalsidase Alfa Enzyme Replacement Therapy in Canadian Patients with Fabry Disease Following Implementation of a Bioreactor Process.
The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease.
The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease.
The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.
The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease.
Therapeutic advances in Fabry disease: The future awaits.
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Thrombosis in Japanese patients with Fabry disease.
Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease.
To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model.
Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease.
Treatment of Anderson-Fabry disease.
Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.
Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg.
Treatment with agalsidase beta during pregnancy in Fabry disease.
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.
Two cases of Fabry's disease: a hemizygote with a point mutation in the alpha-galactosidase A gene and his relative.
Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.
Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease.
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.
Ultrastructural study of renal involvement in two females with Anderson-Fabry disease.
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease.
Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy.
Update on role of agalsidase alfa in management of Fabry disease.
Uptake of lysosomal enzymes by human fibroblasts: lack of uptake of fungal or plant glycosidases in comparison with a mammalian enzyme.
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.
Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes.
Urine-derived cells: a promising diagnostic tool in Fabry disease patients.
Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells.
Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease.
Variable phenotypic presentations of renal involvement in Fabry disease: a case series.
Vascular complications of Fabry disease: enzyme replacement and other therapies.
Vascular dysfunction in the alpha-galactosidase A-knockout mouse is an endothelial cell-, plasma membrane-based defect.
Vasculopathy in patients with Fabry disease: current controversies and research directions.
Ventricular fibrillation associated with vasospastic angina pectoris in Fabry disease: a case report.
Ventricular fibrillation refractory to automatic internal cardiac defibrillator in Fabry's disease. Review of cardiovascular manifestations.
Ventricular tachycardia: a presentation of Fabry disease case report.
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.
When and How to Diagnose Fabry Disease in Clinical Pratice.
X-chromosome inactivation: role in skin disease expression.
[A case of acroparesthesias, asthenia and fever. A new mutation in Fabry's disease].
[A case of Anderson-Fabry disease: a multidisciplinary approach for diagnosis and follow up].
[A case of Fabry's disease associated with lupus nephritis]
[A case of Fabry's disease detected by renal biopsy findings]
[A case of Fabry's disease with chronic renal failure]
[A family with a rare disease]
[Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy]
[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)]
[Anderson-Fabry disease]
[Anderson-Fabry's disease: diagnostic problems, therapeutic relevance, and clinical experience in the treatment of the disease with enzyme replacement therapy in nephropathic patients]
[Angiokeratoma corporis diffusum (Fabry's disease). Biochemical diagnosis in plasma]
[Angiokeratoma corporis diffusum (Fabry's disease). Update. Apropos of 2 cases]
[Atypical symptoms of Fabry's disease: sudden bilateral deafness, lymphoedema and Lown-Ganong-Levine syndrome]
[Auditory and vestibular findings in Fabry disease: A study of 25 patients.]
[Autonomic dysfunction in metabolic diseases]
[Biochemical diagnosis of Anderson-Fabry disease in two brothers]
[Biochemical study of unusual cases of Fabry disease]
[Bone involvement in Fabry disease.]
[Cardiac manifestation of Fabry's disease: current knowledge]
[Cardiac manifestations of Fabry's disease]
[Cardiological follow-up in patients with Fabry disease].
[Chaperone molecules: The example of Fabry disease].
[Clinical courses of two male siblings on hemodialysis for Fabry disease ]
[Clinical development of agalsidase-beta for the treatment of Fabry disease.]
[Combined heart and kidney transplantation in Fabry's disease: Long-term outcomes in two patients].
[Comparison of patients from a Spanish Registry of Fabry disease in two periods.]
[Contribution of genotyping in Fabry's disease].
[Cornea verticillata - a clinical marker of Fabry disease: case report]
[Cryptogenic cerebral infarction: from classification to concept.]
[Diagnosis of Fabry disease: usefulness of the clinical investigation].
[Diagnostic problems in a 17-year-old patient with gastrointestinal manifestations of Fabry disease].
[Early acroparesthesia in females: a sign disclosing heterozygote Fabry disease]
[Effect of alpha-galactosidase A deficiency on FV leiden fibrin deposition and thrombosis in mice]
[Effect of enzyme replacement therapy (ERT) on renal function of patients with Fabry's disease]
[Effect of renin-angiotensin system in Fabry disease associated proteinuria]
[End-stage cardiac manifestations and autopsy findings in patients with cardiac fabry disease]
[Enzyme replacement therapy of Fabry's disease: the French experience]
[Fabry disease (alpha-galactosidase deficiency)]
[Fabry disease in 2004]
[Fabry disease in adulthood: clinical aspects and therapeutic progress]
[Fabry disease in Italy: first epidemiologic and collaborative study]
[Fabry disease in light of recent review]
[Fabry disease in Spain: first analysis of the response to enzyme replacement therapy]
[Fabry disease--a provocation for pediatrics]
[Fabry disease. Clinical and genetic aspects. Therapeutic perspectives]
[Fabry disease: clinic and enzymatic diagnosis of homozygous and heterozygous. New therapeutic prospects.]
[Fabry disease: data from four families]
[Fabry disease: diagnostic due of substitutive enzyme-therapy]
[Fabry disease: proposed guidelines from a French expert group for its diagnosis, treatment and follow-up]
[Fabry disease]
[Fabry disease].
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects]
[Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations]
[Fabry's disease and hypoparathyroidism]
[Fabry's disease in Spain. Study of 24 cases]
[Fabry's disease with malocclusion and acromegalic-appearance: clinical and electromicroscopic studies (author's transl)]
[Fabry's disease. An orphan disease that has found a solution: enzymatic replacement with alpha-galactosidase]
[Fabry's disease. Carbamazepine therapy in acrodyniform syndrome]
[Fabry's disease: a clinical case and literature review.]
[Fabry's disease: an example of cardiorenal syndrome type 5].
[Fabry's disease: new therapeutic options for this lysosomal storage disorder]
[Fabry's disease; towards a treatment]
[Gene therapy of Gaucher's and Fabry's diseases: current status and prospects]
[Genetic and clinical study of three Chinese pedigrees with Fabry disease].
[Genetics of Fabry disease: diagnostic and therapeutic implications]
[Globotriaosylceramide measurement in urine.]
[Guidelines for diagnosis, monitoring and treatment of Fabry disease].
[Hearing loss in patients with Fabry disease]
[Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management].
[Interest and limits of determination of a-galactosidase A enzymatic activity in population at risk for Fabry disease.]
[Isolated left ventricular hypertrophy : is it a Fabry disease?]
[Isolation and identification of products of accumulation in Fabry disease]
[Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy]
[Molecular forms of human leukocytic alpha-galactosidase and N-acetyl-alpha-galactosaminidase]
[Molecular genetic analysis of a Japanese family with Fabry disease]
[Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease]
[Molecular pathology and clinical manifestations of Fabry disease.]
[Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease]
[Myocardial disease in inherited disease]
[Neurological aspects of Fabry disease.]
[Neurological aspects of Fabry disease]
[Neurological aspects of Fabry's disease]
[Neurological manifestations of Fabry disease]
[Neuropathic pain in a young female patient with Fabry's disease: a new mutation of the alpha-galactosidase A gene]
[Ocular findings in Fabry's disease]
[Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease]
[Pathophysiological aspects of brain structural disturbances in patients with Fabry disease: literature review]
[Pedigree investigation of clinicopathologic features and alpha-galactosidase A gene mutation in a family with Fabry disease].
[Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family]
[Priapism associated with Fabry's disease]
[Psychiatric and neuropsychological signs and symptoms in patients with fabry disease: literature review]
[Recent advances of Fabry disease screening for at risk population.]
[Stroke and cornea verticillata revealing Fabry's disease in a female].
[Substrate specificity of multiple forms of human alpha-D-galactosidase and alpha-D-fucosidase]
[The anesthetic management of a patient with Fabry's disease]
[The cochlea in Fabry disease: a sensorineural hearing loss model of vascular origin?]
[The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy].
[The neurological manifestations of Fabry disease. A review].
[The prevalence of Fabry's disease among male patients on hemodialysis in Lithuania (A screening study).]
[The unusual couple: a clinical case of coexistence between aHUS and Fabry's disease].
[Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood].
[Ultrastructural changes in the skin of patients with Fabry's angiokeratoma]
[Update on the treatment of Fabry's disease: pathophysiological concepts].
[Visceral manifestations of glycosphingolipidosis (Fabry's disease)]
Food Hypersensitivity
'Doc, will I ever eat steak again?': diagnosis and management of alpha-gal syndrome.
Delayed anaphylaxis to alpha-gal, an oligosaccharide in mammalian meat.
Delayed anaphylaxis, angioedema, or urticaria after consumption of red meat in patients with IgE antibodies specific for galactose-alpha-1,3-galactose.
Diagnosis of Life-Threatening Alpha-Gal Food Allergy Appears to Be Patient Driven.
Discovery of Alpha-Gal-Containing Antigens in North American Tick Species Believed to Induce Red Meat Allergy.
Food Allergy: Our Evolving Understanding of Its Pathogenesis, Prevention, and Treatment.
IgE mediated food allergy throughout the life.
IL-4 and IFN-gamma level in blood serum of children with food allergy.
Invited Commentary: Alpha-Gal Allergy: Tip of the Iceberg to a Pivotal Immune Response.
Patients' Health Information Practices and Perceptions of Provider Knowledge in the Case of the Newly Discovered Alpha-gal Food Allergy.
Possible Role of Environmental Factors in the Development of Food Allergies.
The clinical presentation of alpha-gal allergy among pediatric patients with food allergy in southwest Missouri.
Tick Saliva and the Alpha-Gal Syndrome: Finding a Needle in a Haystack.
Fucosidosis
Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases.
Ganglion Cysts
[Neurological complications of Fabry-disease].
Gastrointestinal Diseases
A thermostable alpha-galactosidase from Lactobacillus fermentum CRL722: genetic characterization and main properties.
Lactobacillus fermentum CRL 722 is able to deliver active alpha-galactosidase activity in the small intestine of rats.
Reduction of non-digestible oligosaccharides in soymilk: application of engineered lactic acid bacteria that produce alpha-galactosidase.
Gaucher Disease
Acid beta-glucosidase: insights from structural analysis and relevance to Gaucher disease therapy.
Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases.
Eliglustat: first global approval.
Emerging strategies for the treatment of hereditary metabolic storage disorders.
Enzyme replacement therapy "drug holiday": Results from an unexpected shortage of an orphan drug supply in Australia.
Enzyme replacement therapy for Gaucher disease.
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources.
Fabry disease in the era of enzyme replacement therapy: a renal perspective.
First long-term results of imiglucerase therapy of type 1 Gaucher disease.
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses.
Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients.
Imiglucerase and its use for the treatment of Gaucher's disease.
Imiglucerase in the treatment of Gaucher disease: a history and perspective.
Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes.
Individualization of long-term enzyme replacement therapy for Gaucher disease.
Interruption of enzyme replacement therapy in Gaucher disease.
Intravenous enzyme replacement therapy: better in home or hospital?
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.
Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease.
Lysosomal storage diseases.
Safety and efficacy of velaglucerase alfa replacement therapy for patients with type 1 Gaucher disease.
[Gene therapy of Gaucher's and Fabry's diseases: current status and prospects]
Genetic Diseases, Inborn
A randomised controlled trial evaluating arrhythmia burden, risk of sudden cardiac death and stroke in patients with Fabry disease: the role of implantable loop recorders (RaILRoAD) compared with current standard practice.
Cardiac manifestations in Fabry disease.
Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval.
Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy.
Fabry disease--a diagnostic and therapeutic problem.
Fabry's disease presenting as ventricular tachycardia and left ventricular 'hypertrophy'.
Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.
Fabry's disease: clinical, pathologic and biochemical manifestations in two Chinese males.
Fibrosis: a key feature of Fabry disease with potential therapeutic implications.
Integrative Systems Biology Investigation of Fabry Disease.
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.
New mutation in Fabry disease: c.448delG, first phenotypic description.
Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.
Plasma globotriaosylsphingosine as a biomarker of Fabry disease.
Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information.
Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.
The vascular dementia of Fabry's disease.
Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease.
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.
[A case of Fabry's disease with chronic renal failure]
[Clinical development of agalsidase-beta for the treatment of Fabry disease.]
[Fabry disease]
[The anesthetic management of a patient with Fabry's disease]
Genetic Diseases, X-Linked
Combined heart and kidney transplantation in a patient with Fabry disease in the enzyme replacement therapy era.
[Fabry disease: A review].
Glomerulonephritis, IGA
Antimouse laminin antibodies in IgA nephropathy and various glomerular diseases.
Hemizygous Fabry disease associated with IgA nephropathy: a case report.
Glomerulosclerosis, Focal Segmental
Unexpectedly High Prevalence of Low Alpha-Galactosidase A Enzyme Activity in Patients with Focal Segmental Glomerulosclerosis.
Glucose Intolerance
Glucose intolerance in a xenotransplantation model: studies in alpha-gal knockout mice.
Glycogen Storage Disease
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Glycogen Storage Disease Type II
alpha-glucosidase (CHO) (Genzyme).
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases.
Establishing Pompe Disease Newborn Screening: The Role of Industry.
Lysosomal storage diseases.
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
[Enzyme replacement therapy in a patient with Pompe disease]
Glycosuria
Acid glycohydrolase in Chinese hamster with spontaneous diabetes. I. Depressed levels of renal alpha-galactosidase and beta-galactosidase.
Goiter, Nodular
Administration of a single low dose of recombinant human thyrotropin significantly enhances thyroid radioiodide uptake in nontoxic nodular goiter.
Graft vs Host Disease
Reduction of Thymoglobuline from 7.5 mg/kg to 6 mg/kg in conditioning regimen extended time to the first cytomegalovirus detection after allogenic haematopoietic stem cell transplantation.
Hearing Loss
Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey.
Hearing improvement in patients with Fabry disease treated with agalsidase alfa.
Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy.
Inner ear pathology of alpha-galactosidase A deficient mice, a model of Fabry disease.
Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease.
Hearing Loss, Bilateral
[Atypical symptoms of Fabry's disease: sudden bilateral deafness, lymphoedema and Lown-Ganong-Levine syndrome]
Heart Diseases
A detailed pathologic examination of heart tissue from three older patients with Anderson-Fabry disease on enzyme replacement therapy.
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease.
Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme(®)) to Agalsidase Alfa (Replagal (®)).
Heart Failure
CardioPulse Articles * Focused Update of the ESC Guidelines on device therapy in heart failure * ESC recommendations for individual certification and institutional cardiovascular magnetic resonance accreditation, in Europe * The final, Climbing the academic ladder in cardiology: USA * There are two different career tracks for academic medicine in the USA * Company success: Genzyme * Genzyme's research in cardiovascular disease, putting rare conditions on centre stage * Towards individualized preventive therapy.
Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment.
Histologic and electron microscopy findings in myocardium of treated Fabry disease.
[Current management of Fabry disease]
Hematologic Neoplasms
Autologous tumor vaccines processed to express alpha-gal epitopes: a practical approach to immunotherapy in cancer.
Hematuria
Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.
Hepatitis C
Interaction between hepatitis C virus core protein and translin protein--a possible molecular mechanism for hepatocellular carcinoma and lymphoma caused by hepatitis C virus.
[Screening and cloning gene of hepatocyte protein interacting with hepatitis C virus core protein]
Hepatolenticular Degeneration
[Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood].
Herpes Zoster
Anaphylaxis after zoster vaccine: Implicating alpha-gal allergy as a possible mechanism.
Gelatin-Containing Vaccines for Varicella, Zoster, Measles, Mumps, and Rubella Induce Basophil Activation in Patients with Alpha-Gal Syndrome.
Homozygous Familial Hypercholesterolemia
Mipomersen sodium: first global approval.
Hyperglycemia
Immunoregulatory effect of anti-thymocyte globulin monotherapy on peripheral lymphoid tissues of non-obese diabetic mice.
Plasma glycohydrolase levels in patients with type 1 diabetes at onset and in subjects undergoing an intravenous glucose tolerance test.
Hypersensitivity
'Doc, will I ever eat steak again?': diagnosis and management of alpha-gal syndrome.
A BULL IN A PILL SHOP: ALPHA-GAL ALLERGY COMPLICATING TREATMENT OPTIONS FOR POSTPROCEDURAL HYPOTHYROIDISM.
A Peculiar Cause of Anaphylaxis: No More steak? : The Journey to Discovery of a Newly Recognized Allergy to Galactose-alpha-1,3-galactose Found in Mammalian Meat.
A tick-acquired red meat allergy.
Accurate assessment of alpha-gal syndrome using cetuximab and bovine thyroglobulin-specific IgE.
Allergic Reactions and Immunity in Response to Tick Salivary Biogenic Substances and Red Meat Consumption in the Zebrafish Model.
Allergic response to medical products in patients with alpha-gal syndrome.
Allergy in frequent travelers: the alpha-gal story and the first UK case series.
Allergy to Mammalian Meat Linked to Alpha-Gal Syndrome Potentially After Tick Bite in the Amazon: A Case Series.
Alpha gal specific IgE positivity due to tick bites and red meat allergy: the first case report in Turkey.
Alpha-gal allergy after a tick bite in Austria.
Alpha-Gal Allergy as a Cause of Intestinal Symptoms in a Gastroenterology Community Practice.
Alpha-gal Allergy in a 6-Year-Old Male: A Case Report.
Alpha-gal antibody due to Lone Star tick bite, a unique case of allergic reaction.
Alpha-gal is a possible target of IgE-mediated reactivity to antivenom.
Alpha-gal syndrome: An emerging cause of food and drug allergy.
Anaphylaxis after vaccination in a pediatric patient: further implicating alpha-gal allergy.
Anaphylaxis after zoster vaccine: Implicating alpha-gal allergy as a possible mechanism.
Aortic homograft for aortic valve replacement in patient with Alpha-Gal allergy.
Ascaris lumbricoides and ticks associated with sensitization to galactose ?1,3-galactose and elicitation of the alpha-gal syndrome.
Characterization of the anti-?-Gal antibody profile in association with Guillain-Barré syndrome, implications for tick-related allergic reactions.
Considerations for cataract surgery: alpha-gal allergy.
Delayed Anaphylaxis Involving IgE to Galactose-alpha-1,3-galactose.
Delayed anaphylaxis to alpha-gal, an oligosaccharide in mammalian meat.
Delayed immediate-type hypersensitivity to red meat and innards: current insights into a novel disease entity.
Delayed urticaria or anaphylaxis after consumption of red meat with evidence of alpha-gal sensitisation.
Diagnosis & management of alpha-gal syndrome: lessons from 2,500 patients.
Diagnosis of Life-Threatening Alpha-Gal Food Allergy Appears to Be Patient Driven.
Diagnostic testing for galactose-alpha-1,3-galactose, United States, 2010 to 2018.
Galactose-?-1,3-galactose (alpha-gal) allergy: first pediatric case in a series of patients in Spain.
Gelatin-Containing Vaccines for Varicella, Zoster, Measles, Mumps, and Rubella Induce Basophil Activation in Patients with Alpha-Gal Syndrome.
Glycolipid-mediated basophil activation in alpha-gal allergy.
IgE antibodies to alpha-gal in foresters and forest workers from La Rioja, North of Spain.
IgE mediated food allergy throughout the life.
IL-4 and IFN-gamma level in blood serum of children with food allergy.
Increased rates of cetuximab reactions in tick prevalent regions and a proposed protocol for risk mitigation.
Ingestion of mammalian meat and alpha-gal allergy: Clinical relevance in primary care.
Intraoperative Anaphylaxis in Response to Hemostatic Agents With Protein Derivatives.
Intraoperative anaphylaxis to gelatin-based hemostatic agents: a case report.
Invited Commentary: Alpha-Gal Allergy: Tip of the Iceberg to a Pivotal Immune Response.
Isolated Gastrointestinal Alpha-gal Meat Allergy Is a Cause for Gastrointestinal Distress Without Anaphylaxis.
Mammalian Meat Allergy Accompanied by Venom Allergy: A Review of 12 Cases.
Mammalian meat allergy following a tick bite: a case report.
Near-fatal anaphylaxis with Kounis syndrome caused by Argas reflexus bite: a case report.
Patients' Health Information Practices and Perceptions of Provider Knowledge in the Case of the Newly Discovered Alpha-gal Food Allergy.
Perioperative Considerations for the Emerging Alpha-gal Allergy.
Plaque Rupture-Induced Myocardial Infarction and Mechanical Circulatory Support in Alpha-Gal Allergy.
Predictive values of alpha-gal IgE levels and alpha-gal IgE: Total IgE ratio and oral food challenge-proven meat allergy in a population with a high prevalence of reported red meat allergy.
Premature Bioprosthetic Aortic Valve Degeneration Associated with Allergy to Galactose-Alpha-1,3-Galactose.
Prevalence and Impact of Type I Sensitization to Alpha-Gal in Patients Consulting an Allergy Unit.
Red meat allergy induced by tick bites: A Norwegian case report.
Red meat desensitization in a child with delayed anaphylaxis due to alpha-Gal allergy.
Regional and temporal awareness of alpha-gal allergy: An infodemiological analysis using Google Trends.
Repeated Amblyomma testudinarium tick bites are associated with increased galactose-?-1,3-galactose carbohydrate IgE antibody levels: A retrospective cohort study in a single institution.
Safety of Intravenous Heparin for Cardiac Surgery in Patients With Alpha-Gal Syndrome.
Skin prick test and basophil reactivity to cetuximab in patients with IgE to alpha-gal and allergy to red meat.
Speculations on red meat allergy due to Alpha-Gal; its connection to coronary artery disease, suggested dietary guidance and allergy testing.
The basophil activation test differentiates between patients with alpha-gal syndrome and asymptomatic alpha-gal sensitization.
The clinical presentation of alpha-gal allergy among pediatric patients with food allergy in southwest Missouri.
The History of Carbohydrates in Type I Allergy.
Tick exposures and alpha-gal syndrome: A systematic review of the evidence.
Tick salivary gland extract induces alpha-gal syndrome in alpha-gal deficient mice.
Tolerance of porcine pancreatic enzymes despite positive skin testing in alpha-gal allergy.
What Does a Red Meat Allergy Have to Do With Anesthesia? Perioperative Management of Alpha-Gal Syndrome.
[Alpha-Gal-associated delayed red meat anaphylaxis as an occupational disease].
[Red meat allergy].
[The alpha-gal syndrome: an allergic reaction to mammalian meat secondary to a tick bite].
Hypersensitivity, Delayed
Tick salivary gland extract induces alpha-gal syndrome in alpha-gal deficient mice.
Hypersensitivity, Immediate
Delayed immediate-type hypersensitivity to red meat and innards: current insights into a novel disease entity.
The first reported cases of meat allergy following tick bites in the UK.
Hypertension
[Current management of Fabry disease]
[Two cases of heterozygous Fabry disease]
Hypertriglyceridemia
Evaluation of a rapid homogeneous method for direct measurement of high-density lipoprotein cholesterol.
Hypertrophy, Left Ventricular
A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
Agalsidase alfa for enzyme-replacement therapy in Fabry disease.
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.
Early detection of Fabry cardiomyopathy by tissue Doppler imaging.
Effects of Baseline Left Ventricular Hypertrophy and Decreased Renal Function on Cardiovascular and Renal Outcomes in Patients with Fabry Disease Treated with Agalsidase Alfa: A Fabry Outcome Survey Study.
Fabry disease in patients with hypertrophic cardiomyopathy (HCM).
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.
Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment.
The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients.
Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease.
[Myocardial disease in inherited disease]
Hypohidrosis
A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement.
Fabry disease: enzyme replacement therapy.
Later-Onset Fabry Disease: An Adult Variant Presenting With the Cramp-Fasciculation Syndrome.
Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response.
[A case of Fabry's disease with chronic renal failure]
Hypothyroidism
A BULL IN A PILL SHOP: ALPHA-GAL ALLERGY COMPLICATING TREATMENT OPTIONS FOR POSTPROCEDURAL HYPOTHYROIDISM.
Expanding use of recombinant hTSH.
Failure of iodine uptake in microscopic pulmonary metastases after recombinant human thyroid-stimulating hormone stimulation.
Recombinant human thyroid stimulating hormone in 2008: focus on thyroid cancer management.
Infections
Effects of entomopathogenic bacterium Photorhabdus temperata infection on the digestive enzymes of Diatraea saccharalis (Lepidoptera: Crambidae) larvae.
Purification and characterization of human alpha-galactosidase A expressed in insect cells using a baculovirus vector.
Reduction of Thymoglobuline from 7.5 mg/kg to 6 mg/kg in conditioning regimen extended time to the first cytomegalovirus detection after allogenic haematopoietic stem cell transplantation.
Sensitivity to human serum of gammaretroviruses produced from pig endothelial cells transduced with glycosyltransferase genes.
Vaccination with Alpha-Gal Protects Against Mycobacterial Infection in the Zebrafish Model of Tuberculosis.
Influenza, Human
Immunogenicity of influenza virus vaccine is increased by anti-gal-mediated targeting to antigen-presenting cells.
Mechanism for increased immunogenicity of vaccines that form in vivo immune complexes with the natural anti-Gal antibody.
Synthesis of alpha-gal epitopes on influenza virus vaccines, by recombinant alpha 1,3galactosyltransferase, enables the formation of immune complexes with the natural anti-Gal antibody.
The American Society for Virology--29th Annual Meeting.
Intestinal Obstruction
Sodium hyaluronate-based bioresorbable membrane (Seprafilm) reduced early postoperative intestinal obstruction after lower abdominal surgery for colorectal cancer: the preliminary report.
Iron Overload
Drug evaluation: deferitrin (GT-56-252; NaHBED) for iron overload disorders.
Drug evaluation: Deferitrin for iron overload disorders.
Irritable Bowel Syndrome
Alpha-Gal Allergy as a Cause of Intestinal Symptoms in a Gastroenterology Community Practice.
Ischemic Attack, Transient
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
Ischemic Stroke
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.
Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.
Novel alpha-galactosidase A mutation in a female with recurrent strokes.
Prevalence of Fabry Disease in Young Patients with Cryptogenic Ischemic Stroke.
Kidney Diseases
Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.
Kidney Failure, Chronic
Agalsidase alfa and kidney dysfunction in Fabry disease.
Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice.
Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease.
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Patients with Fabry disease on dialysis in the United States.
Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease.
Significance of screening for Fabry disease among male dialysis patients.
Unexpectedly High Prevalence of Low Alpha-Galactosidase A Enzyme Activity in Patients with Focal Segmental Glomerulosclerosis.
[Current management of Fabry disease]
Kwashiorkor
Lysosomal enzymuria in protein energy malnutrition.
Lactose Intolerance
Enhancement of alpha- and beta-Galactosidase Activity in Lactobacillus reuteri by Different Metal Ions.
Leukemia
Preparation of autologous leukemia and lymphoma vaccines expressing alpha-gal epitopes.
Serum and host liver activities of glycosidases and sialyltransferases in animals bearing transplantable tumors.
Leukemia, Lymphocytic, Chronic, B-Cell
FDA drug approval summary: alemtuzumab as single-agent treatment for B-cell chronic lymphocytic leukemia.
Leukodystrophy, Metachromatic
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Liver Cirrhosis
Increased serum alpha-L-fucosidase and beta-N-acetylglucosaminidase activities in diabetic, cirrhotic and gastric cancer patients.
Liver Diseases
[Clinical value of N-acetyl-beta-D-glucosaminidase and alpha-galactosidase in liver diseases]
Lupus Nephritis
[A case of Fabry's disease associated with lupus nephritis]
Lyme Disease
Evaluation of fifteen commercially available serological tests for diagnosis of Lyme borreliosis.
Lymphangioma, Cystic
Prenatal diagnosis from cystic hygroma fluid: the value of fluorescence in situ hybridization.
Lymphoma
Anti-Gal-mediated targeting of human B lymphoma cells to antigen-presenting cells: a potential method for immunotherapy using autologous tumor cells.
Anti-pig antibody levels in naïve baboons and cynomolgus monkeys.
Preparation of autologous leukemia and lymphoma vaccines expressing alpha-gal epitopes.
Lymphoma, Non-Hodgkin
FDA review summary: Mozobil in combination with granulocyte colony-stimulating factor to mobilize hematopoietic stem cells to the peripheral blood for collection and subsequent autologous transplantation.
Lysosomal Storage Diseases
A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease.
A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.
A diagnosis of Fabry gastrointestinal disease by chance: a case report.
Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease.
Bilateral femoral head and distal tibial osteonecrosis in a patient with Fabry disease.
Bone and joint involvement in Fabry disease.
Can we use statins to prevent stroke in Fabry disease?
Cardiopulmonary involvement in Fabry's disease.
Case report: is low ?-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?
Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer.
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa.
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Coronary artery bypass graft in a patient with Fabry's disease.
Detection of alpha-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography.
Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).
Elevated globotriaosylsphingosine is a hallmark of Fabry disease.
Enhanced endothelium-dependent vasodilation in Fabry disease.
Enzyme replacement and beyond.
Enzyme replacement therapy for Fabry disease, an inherited nephropathy.
Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement.
Enzyme replacement therapy of Fabry disease.
Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease.
Expression of genes and their responses to enzyme replacement therapy in a Fabry disease mouse model.
Fabry disease in a patient with Turner syndrome.
Fabry disease in two brothers with proteinuria: A case report and Fabry disease review?.
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Galactosialidosis in two siblings.
Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.
Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease.
Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report.
Identification of the glycosidase inhibitors swainsonine and calystegine B2 in Weir vine (Ipomoea sp. Q6 [aff. calobra]) and correlation with toxicity.
Later-Onset Fabry Disease: An Adult Variant Presenting With the Cramp-Fasciculation Syndrome.
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.
Magnetic Resonance Image Findings in 5 Young Patients With Fabry Disease.
Multidisciplinary approach to Fabry disease: from the eye of a neurologist.
Narrative review: Fabry disease.
Natural history of the cerebrovascular complications of Fabry disease.
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.
Prevalence of Fabry Disease in Young Patients with Cryptogenic Ischemic Stroke.
RIPK3 Contributes to Lyso-Gb3-Induced Podocyte Death.
Structural basis of Fabry disease.
Structure-function relationships in alpha-galactosidase A.
Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy.
The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease.
The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease.
Thrombosis in Japanese patients with Fabry disease.
Treatment with agalsidase beta during pregnancy in Fabry disease.
Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
[Anderson-Fabry disease]
[Cardiac manifestation of Fabry's disease: current knowledge]
[Fabry-Anderson disease: current state of knowledge].
[Hearing loss in patients with Fabry disease]
Malaria
Structural similarities among malaria toxins insulin second messengers, and bacterial endotoxin.
Mannosidase Deficiency Diseases
Identification of the glycosidase inhibitors swainsonine and calystegine B2 in Weir vine (Ipomoea sp. Q6 [aff. calobra]) and correlation with toxicity.
Measles
Gelatin-Containing Vaccines for Varicella, Zoster, Measles, Mumps, and Rubella Induce Basophil Activation in Patients with Alpha-Gal Syndrome.
[Seroprevalence of antibodies against measles, rubella, mumps and varicella among school children in Madrid]
Melanoma
Genzyme Molecular Oncology receives patent for melanoma immunogens.
Increased immunogenicity of tumor vaccines complexed with anti-Gal: studies in knockout mice for alpha1,3galactosyltransferase.
Intratumoral injection of alpha-gal glycolipids induces a protective anti-tumor T cell response which overcomes Treg activity.
Reduction of metastatic properties of BL6 melanoma cells expressing terminal fucose(alpha)1-2-galactose after alpha1,2-fucosyltransferase cDNA transfection.
Metabolic Diseases
Oral and craniofacial findings in Fabry's disease: a report of 13 patients.
Ventricular tachycardia: a presentation of Fabry disease case report.
[Fabry disease in 2004]
[Fabry disease--a provocation for pediatrics]
Mucolipidoses
Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses.
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.
Urinary lysosomal hydrolases in mucolipidosis II and mucolipidosis III.
Mucopolysaccharidoses
[Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood].
Mucopolysaccharidosis I
Lysosomal storage diseases.
Mucopolysaccharidosis IV
Lysosomal storage diseases.
Multicystic Dysplastic Kidney
Simultaneous multicystic kidney and Anderson-Fabry disease: 2 separate entities or same side of the coin.
Multiple Myeloma
FDA review summary: Mozobil in combination with granulocyte colony-stimulating factor to mobilize hematopoietic stem cells to the peripheral blood for collection and subsequent autologous transplantation.
Multiple Sclerosis
Alemtuzumab (LEMTRADA) and multiple sclerosis. Biased evaluation, evidence of serious risks.
CME/CNE Article: A Framework of Care in Multiple Sclerosis, Part 1: Updated Disease Classification and Disease-Modifying Therapy Use in Specific Circumstances.
Mumps
Gelatin-Containing Vaccines for Varicella, Zoster, Measles, Mumps, and Rubella Induce Basophil Activation in Patients with Alpha-Gal Syndrome.
[Seroprevalence of antibodies against measles, rubella, mumps and varicella among school children in Madrid]
Muscular Atrophy, Spinal
Expanded carrier screening in gamete donors of Venezuela.
New treatments for denervating diseases.
Muscular Dystrophies
Serum alpha-galactosidase activity in children with Duchenne-type muscular dystrophy and in gene carriers.
Muscular Dystrophy, Duchenne
Comparison of the physical and recombination maps of the mouse X chromosome.
Serum alpha-galactosidase activity in children with Duchenne-type muscular dystrophy and in gene carriers.
Myocardial Infarction
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency.
Caveolin-associated accumulation of globotriaosylceramide in the vascular endothelium of alpha-galactosidase A null mice.
Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase.
Influence of isoproterenol-induced myocardial infarction on certain glycohydrolases and cathepsins in rats.
Plaque Rupture-Induced Myocardial Infarction and Mechanical Circulatory Support in Alpha-Gal Allergy.
Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease.
Neoplasm Metastasis
Intratumoral injection of alpha-gal glycolipids induces a protective anti-tumor T cell response which overcomes Treg activity.
Malignant struma ovarii: an unusual presentation.
Neoplasm Micrometastasis
Intratumoral injection of alpha-gal glycolipids induces a protective anti-tumor T cell response which overcomes Treg activity.
Intratumoral injection of alpha-gal glycolipids induces xenograft-like destruction and conversion of lesions into endogenous vaccines.
Neoplasms
ABH blood group antigen expression, synthesis, and degradation in human colonic adenocarcinoma cell lines.
Anti-Gal-mediated targeting of human B lymphoma cells to antigen-presenting cells: a potential method for immunotherapy using autologous tumor cells.
Autologous tumor vaccines processed to express alpha-gal epitopes: a practical approach to immunotherapy in cancer.
Cabazitaxel plus carboplatin for the treatment of men with metastatic castration-resistant prostate cancers: a randomised, open-label, phase 1-2 trial.
Cell surface laminin-like substances and laminin-related carbohydrates of rat ascites hepatoma AH7974 and its variants with different lung-colonizing potential.
Expanding use of recombinant hTSH.
Expression of alpha-gal epitopes on ovarian carcinoma membranes to be used as a novel autologous tumor vaccine.
Glycosidases of Ehrlich ascites tumor cells and ascitic fluid--purification and substrate specificity of alpha-N-acetylgalactosaminidase and alpha-galactosidase: comparison with coffee bean alpha-galactosidase.
In vivo targeting of vaccinating tumor cells to antigen-presenting cells by a gene therapy method with adenovirus containing the alpha1,3galactosyltransferase gene.
Increased immunogenicity of tumor vaccines complexed with anti-Gal: studies in knockout mice for alpha1,3galactosyltransferase.
Increased immunogenicity of tumor-associated antigen, mucin 1, engineered to express alpha-gal epitopes: a novel approach to immunotherapy in pancreatic cancer.
Intratumoral injection of alpha-gal glycolipids induces a protective anti-tumor T cell response which overcomes Treg activity.
Intratumoral injection of alpha-gal glycolipids induces xenograft-like destruction and conversion of lesions into endogenous vaccines.
Metabolic engineering of Agrobacterium sp. strain ATCC 31749 for production of an alpha-Gal epitope.
Outcome after ablation in patients with low-risk thyroid cancer (ESTIMABL1): 5-year follow-up results of a randomised, phase 3, equivalence trial.
Protective, anti-tumor monoclonal antibody recognizes a conformational epitope similar to melibiose at the surface of invasive murine melanoma cells.
Serum levels of interleukin-2 and tumor necrosis factor-alpha correlate to tumor progression in gastric cancer.
Structural similarities among malaria toxins insulin second messengers, and bacterial endotoxin.
Synthesis of alpha-gal epitopes (Galalpha1-3Galbeta1-4GlcNAc-R) on human tumor cells by recombinant alpha1,3galactosyltransferase produced in Pichia pastoris.
The alpha-gal epitope and the anti-Gal antibody in xenotransplantation and in cancer immunotherapy.
Nephritis, Hereditary
Molecular therapy for renal diseases.
Neuralgia
A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.
Agalsidase alfa for enzyme-replacement therapy in Fabry disease.
Agalsidase alfa: a review of its use in the management of fabry disease.
Enzyme replacement therapy in Fabry disease.
Enzyme replacement therapy in Fabry disease: a randomized controlled trial.
Fabry disease in children and the effects of enzyme replacement treatment.
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
[Neuropathic pain in a young female patient with Fabry's disease: a new mutation of the alpha-galactosidase A gene]
Neuroinflammatory Diseases
Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in amyotrophic lateral sclerosis: a survey clinic-based study.
Neurologic Manifestations
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.
Fabry disease: enzyme replacement therapy.
Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy.
Occupational Diseases
Galactose-?-1,3-galactose (alpha-gal) allergy: first pediatric case in a series of patients in Spain.
[Alpha-Gal-associated delayed red meat anaphylaxis as an occupational disease].
Osteoarthritis
The tolerability of viscosupplementation: low incidence and clinical management of local adverse events.
Viscosupplementation with hylan G-F 20 (Synvisc): pain and mobility observations from 74 consecutive patients.
Osteoarthritis, Knee
Effects of intra-articular hylan G-F 20 injections on clinical and biomechanical characteristics of the knee in osteoarthritis.
Pancreatic Neoplasms
Increased immunogenicity of tumor-associated antigen, mucin 1, engineered to express alpha-gal epitopes: a novel approach to immunotherapy in pancreatic cancer.
Paraplegia
[A case of chronically progressed peripheral neuropathy, spastic paraplegia, cerebellar ataxia and dementia associated with decreased alpha-galactosidase activity]
Paresthesia
Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients.
Parkinson Disease
Decreased activities of lysosomal acid alpha-D-galactosidase A in the leukocytes of sporadic Parkinson's disease.
Genetic analysis of lysosomal alpha-galactosidase A gene in sporadic Parkinson's disease.
The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein.
Peripheral Nervous System Diseases
[A case of chronically progressed peripheral neuropathy, spastic paraplegia, cerebellar ataxia and dementia associated with decreased alpha-galactosidase activity]
Pharyngitis
[Validation of a rapid antigenic test in the diagnosis of pharyngitis caused by group a beta-haemolytic Streptococcus]
Pleural Effusion
Chromosomal abnormalities among 246 fetuses with pleural effusions detected on prenatal ultrasound examination: factors associated with an increased risk of aneuploidy.
Polycystic Kidney Diseases
Molecular therapy for renal diseases.
Prostatic Neoplasms
Cabazitaxel plus carboplatin for the treatment of men with metastatic castration-resistant prostate cancers: a randomised, open-label, phase 1-2 trial.
Cross-linked hyaluronan gel reduces the acute rectal toxicity of radiotherapy for prostate cancer.
Protein-Energy Malnutrition
Lysosomal enzymuria in protein energy malnutrition.
Proteinuria
Agalsidase alfa and kidney dysfunction in Fabry disease.
Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?
Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype-phenotype expression.
Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.
Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations--different outcome?
Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications.
Fabry's disease. Report of the case diagnosed on the basis of routine ultrastructural examination of the renal biopsy.
Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).
Two unusual cases of Anderson-Fabry disease in a Japanese family.
[Current management of Fabry disease]
[Fabry disease in Spain: first analysis of the response to enzyme replacement therapy]
[First Polish experience with enzyme replacement therapy in patients with Fabry disease]
Psoriasis
BMS-188667 (Bristol-Myers Squibb).
Renal Insufficiency
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
Alpha-galactosidase A activity levels in Turkish male hemodialysis patients.
alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.
Echocardiographic ultrasonic tissue characterization in a case of Fabry's disease following renal transplantation.
Effect of acid-base changes on urinary hydrolases in Fabry's disease after renal transplantation.
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease.
Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications.
Failure to correct the metabolic defect by renal allotransplantion in Fabry's disease.
Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase.
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.
Polarity of alpha-galactosidase A uptake by renal tubule cells.
Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease.
[Combined heart and kidney transplantation in Fabry's disease: Long-term outcomes in two patients].
[Hearing loss in patients with Fabry disease]
Renal Insufficiency, Chronic
Agalsidase alfa: a review of its use in the management of fabry disease.
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
Fabry disease - Vascular manifestations.
Novel dosage forms and regimens for sevelamer-based phosphate binders.
Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.
Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task.
Retinitis
Cytomegalovirus retinitis after hematopoietic stem cell transplantation with alemtuzumab.
Rift Valley Fever
The American Society for Virology--29th Annual Meeting.
Rocky Mountain Spotted Fever
Lone Star Ticks (Amblyomma americanum):: An Emerging Threat in Delaware.
Rubella
Gelatin-Containing Vaccines for Varicella, Zoster, Measles, Mumps, and Rubella Induce Basophil Activation in Patients with Alpha-Gal Syndrome.
[Seroprevalence of antibodies against measles, rubella, mumps and varicella among school children in Madrid]
Sandhoff Disease
Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases.
Sepsis
Technology evaluation: transgenic antithrombin III (rhAT-III), Genzyme Transgenics.
Transgenic antithrombin III (Genzyme).
Skin Diseases
Summary of the OA biomarkers workshop 2010 - genetics and genomics: new targets in OA.
Sleep Deprivation
Circadian rhythm of breath hydrogen in young women.
Small Fiber Neuropathy
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.
Sphingolipidoses
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry.
Sphingolipidoses in Turkey.
[Fabry disease].
[Visceral manifestations of glycosphingolipidosis (Fabry's disease)]
Spotted Fever Group Rickettsiosis
Lone Star Ticks (Amblyomma americanum):: An Emerging Threat in Delaware.
Stomach Neoplasms
Serum levels of interleukin-2 and tumor necrosis factor-alpha correlate to tumor progression in gastric cancer.
Stroke
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency.
Caveolin-associated accumulation of globotriaosylceramide in the vascular endothelium of alpha-galactosidase A null mice.
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease.
Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease.
Magnetic Resonance Image Findings in 5 Young Patients With Fabry Disease.
Novel alpha-galactosidase A mutation in a female with recurrent strokes.
Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease.
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.
Screening for Fabry Disease in Young Strokes in the Australian Stroke Clinical Registry (AuSCR).
Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.
Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry.
[Hearing loss in patients with Fabry disease]
Tachycardia, Ventricular
Advanced Anderson-Fabry disease presenting with left ventricular apical aneurysm and ventricular tachycardia.
Tetanus
Protection against tetanus in the aged people in the Czech Republic--cross-sectional study.
Thrombocytopenia
Imiglucerase and its use for the treatment of Gaucher's disease.
Thrombosis
Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation.
Decreased nitric oxide bioavailability in a mouse model of Fabry disease.
Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.
Technology evaluation: transgenic antithrombin III (rhAT-III), Genzyme Transgenics.
Transgenic antithrombin III (Genzyme).
[Effect of alpha-galactosidase A deficiency on FV leiden fibrin deposition and thrombosis in mice]
[Synergistic effect of deficiency in thrombosis-related genes]
Thyroid Neoplasms
Clinical experience with recombinant human thyroid-stimulating hormone (rhTSH): whole-body scanning with iodine-131.
Expanding use of recombinant hTSH.
Recombinant human thyroid-stimulating hormone (Thyrogen) in thyroid cancer follow up: experience at a single institution.
Recombinant human thyrotropin use resulting in ovarian hyperstimulation: an unusual side effect.
Recombinant human thyrotropin: safety and quality of life evaluation.
Serum vascular endothelial growth factor levels are elevated in metastatic differentiated thyroid cancer but not increased by short-term TSH stimulation.
The role of recombinant thyroid-stimulating hormone (rhTSH) in the detection and management of well-differentiated thyroid carcinoma: a roundtable discussion.
Tick-Borne Diseases
Diseases Transmitted by the Black-Legged Ticks in the United States: A Comprehensive Review of the Literature.
Tinnitus
Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey.
Tuberculosis
Vaccination with Alpha-Gal Protects Against Mycobacterial Infection in the Zebrafish Model of Tuberculosis.
Uremia
B.C.P. Jansen Institute, University of Amsterdam, Amsterdam, The Netherlands.
Urinary Bladder Neoplasms
Role of urinary beta-glucuronidase in human bladder cancer.
Urticaria
Alpha-Gal Allergy as a Cause of Intestinal Symptoms in a Gastroenterology Community Practice.
Delayed Anaphylaxis to Mammalian Meat: A Fascinating Disease and Captivating Story.
Delayed anaphylaxis, angioedema, or urticaria after consumption of red meat in patients with IgE antibodies specific for galactose-alpha-1,3-galactose.
Delayed immediate-type hypersensitivity to red meat and innards: current insights into a novel disease entity.
Delayed urticaria or anaphylaxis after consumption of red meat with evidence of alpha-gal sensitisation.
Diagnosis of Life-Threatening Alpha-Gal Food Allergy Appears to Be Patient Driven.
Recall urticaria - a new clinical sign in the diagnosis of alpha-gal syndrome.
Vaccinia
Natural protection from zoonosis by alpha-gal epitopes on virus particles in xenotransmission.
Varicocele
Abnormal expression of acid glycosidases in seminal plasma and spermatozoa from infertile men with varicocele.
Vascular Diseases
Alpha-galactosidase A in vascular disease.
Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase.
Ventricular Fibrillation
Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson-Fabry disease: a case series.
Virus Diseases
Minimization of viral contamination in human pharmaceuticals produced in the milk of transgenic goats.
Whooping Cough
[Comparison of routine serological investigations performed in three different laboratories in Poland for the diagnosis of pertussis]
[Seroconversion after vaccination against pertussis, Haemophilus influenzae type b and poliomyelitis in preterm infants]
Zoonoses
Reduced sensitivity to human serum inactivation of enveloped viruses produced by pig cells transgenic for human CD55 or deficient for the galactosyl-alpha(1-3) galactosyl epitope.