Disease on EC 3.2.1.22 - alpha-galactosidase and Organism(s) Homo sapiens
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Adenocarcinoma
Alteration in glycosidases from well-differentiated colorectal adenocarcinoma of rat.
alpha-galactosidase deficiency
A metabolomic study reveals novel plasma lyso-gb(3) analogs as fabry disease biomarkers.
alpha-galactosidase deficiency
Ability of Lactobacillus fermentum to overcome host alpha-galactosidase deficiency, as evidenced by reduction of hydrogen excretion in rats consuming soya alpha-galacto-oligosaccharides.
alpha-galactosidase deficiency
Adipocytes participate in storage in alpha-galactosidase deficiency (Fabry disease).
alpha-galactosidase deficiency
Agents for the treatment of glycosphingolipid storage disorders.
alpha-galactosidase deficiency
Alpha-galactosidase A deficiency (Fabry's disease) in a black Zimbabwean.
alpha-galactosidase deficiency
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency.
alpha-galactosidase deficiency
alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.
alpha-galactosidase deficiency
Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation.
alpha-galactosidase deficiency
Analysis of placental tissue in Fabry disease with and without enzyme replacement therapy.
alpha-galactosidase deficiency
Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.
alpha-galactosidase deficiency
Anderson-Fabry disease--family linkage studies using two polymorphic X-linked DNA probes.
alpha-galactosidase deficiency
Anderson-Fabry's disease: neuropathological and neurochemical investigation.
alpha-galactosidase deficiency
Angiokeratoma corporis diffusum (Anderson-Fabry's disease): a case report.
alpha-galactosidase deficiency
Angiokeratoma: Decision Making Methodology for the Diagnosis of Fabry Disease.
alpha-galactosidase deficiency
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.
alpha-galactosidase deficiency
Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice.
alpha-galactosidase deficiency
Belgian Fabry study: prevalence of fabry disease in a cohort of 1000 young patients with cerebrovascular disease.
alpha-galactosidase deficiency
Bilateral femoral head and distal tibial osteonecrosis in a patient with Fabry disease.
alpha-galactosidase deficiency
Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status.
alpha-galactosidase deficiency
Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency).
alpha-galactosidase deficiency
Cardiac abnormalities in Anderson-Fabry disease and Fabry's cardiomyopathy.
alpha-galactosidase deficiency
Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition.
alpha-galactosidase deficiency
Cardiac Microvascular Pathology in Fabry Disease. Evaluation of Endomyocardial Biopsies Before and After Enzyme Replacement Therapy.
alpha-galactosidase deficiency
Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease.
alpha-galactosidase deficiency
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.
alpha-galactosidase deficiency
Corneal alpha-galactosidase deficiency in macular corneal dystrophy.
alpha-galactosidase deficiency
Coronary artery bypass graft in a patient with Fabry's disease.
alpha-galactosidase deficiency
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
alpha-galactosidase deficiency
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.
alpha-galactosidase deficiency
Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.
alpha-galactosidase deficiency
Demographic characterization of Brazilian patients enrolled in the Fabry Registry.
alpha-galactosidase deficiency
Diffuse structural and metabolic brain changes in Fabry disease.
alpha-galactosidase deficiency
Disease manifestations and X inactivation in heterozygous females with Fabry disease.
alpha-galactosidase deficiency
Early detection of Fabry cardiomyopathy by tissue Doppler imaging.
alpha-galactosidase deficiency
Early therapeutic intervention in females with Fabry disease?
alpha-galactosidase deficiency
Electroneuromyographic Features in Fabry Disease: A Retrospective Review.
alpha-galactosidase deficiency
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.
alpha-galactosidase deficiency
Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry Registry.
alpha-galactosidase deficiency
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
alpha-galactosidase deficiency
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males.
alpha-galactosidase deficiency
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
alpha-galactosidase deficiency
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.
alpha-galactosidase deficiency
Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients.
alpha-galactosidase deficiency
High incidence of later-onset fabry disease revealed by newborn screening.
alpha-galactosidase deficiency
Hormonal profile and fertility in patients with Anderson-Fabry disease.
alpha-galactosidase deficiency
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA).
alpha-galactosidase deficiency
Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease.
alpha-galactosidase deficiency
Inner ear pathology of alpha-galactosidase A deficient mice, a model of Fabry disease.
alpha-galactosidase deficiency
Investigation of the alpha-galactosidase deficiency in Fabry's disease using antibodies against the purified enzyme.
alpha-galactosidase deficiency
Lipid profile in adult patients with Fabry disease - Ten-year follow up.
alpha-galactosidase deficiency
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.
alpha-galactosidase deficiency
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.
alpha-galactosidase deficiency
Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients.
alpha-galactosidase deficiency
Magnetic Resonance Image Findings in 5 Young Patients With Fabry Disease.
alpha-galactosidase deficiency
Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.
alpha-galactosidase deficiency
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.
alpha-galactosidase deficiency
Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
alpha-galactosidase deficiency
Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease.
alpha-galactosidase deficiency
Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.
alpha-galactosidase deficiency
Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors.
alpha-galactosidase deficiency
Pathophysiology and assessment of neuropathic pain in Fabry disease.
alpha-galactosidase deficiency
Persistent Alpha-galactosidase A Deficiency After Simultaneous Liver-kidney Transplantation in a Patient With Fabry Disease.
alpha-galactosidase deficiency
Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response.
alpha-galactosidase deficiency
Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi.
alpha-galactosidase deficiency
Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.
alpha-galactosidase deficiency
Quantitative analysis of cerebral vasculopathy in patients with Fabry disease.
alpha-galactosidase deficiency
Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit.
alpha-galactosidase deficiency
Reduction of plasma glycosphingolipid levels has no impact on atherosclerosis in apolipoprotein E-null mice.
alpha-galactosidase deficiency
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease.
alpha-galactosidase deficiency
Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).
alpha-galactosidase deficiency
Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers.
alpha-galactosidase deficiency
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.
alpha-galactosidase deficiency
The Fabry cardiomyopathy - diagnostic approach and current treatment.
alpha-galactosidase deficiency
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
alpha-galactosidase deficiency
Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
alpha-galactosidase deficiency
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.
alpha-galactosidase deficiency
Ventricular fibrillation refractory to automatic internal cardiac defibrillator in Fabry's disease. Review of cardiovascular manifestations.
alpha-galactosidase deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
alpha-galactosidase deficiency
[Combined heart and kidney transplantation in Fabry's disease: Long-term outcomes in two patients].
alpha-galactosidase deficiency
[Diagnosis of Fabry disease: usefulness of the clinical investigation].
alpha-galactosidase deficiency
[Effect of alpha-galactosidase A deficiency on FV leiden fibrin deposition and thrombosis in mice]
alpha-galactosidase deficiency
[Effect of renin-angiotensin system in Fabry disease associated proteinuria]
alpha-galactosidase deficiency
[Fabry disease. Clinical and genetic aspects. Therapeutic perspectives]
alpha-galactosidase deficiency
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects]
alpha-galactosidase deficiency
[Fabry's disease with malocclusion and acromegalic-appearance: clinical and electromicroscopic studies (author's transl)]
alpha-galactosidase deficiency
[Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family]
alpha-galactosidase deficiency
[Stroke and cornea verticillata revealing Fabry's disease in a female].
alpha-galactosidase deficiency
[The anesthetic management of a patient with Fabry's disease]
alpha-galactosidase deficiency
[The prevalence of Fabry's disease among male patients on hemodialysis in Lithuania (A screening study).]
alpha-galactosidase deficiency
[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.
Anaphylaxis
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.
Anaphylaxis
Allergic Reactions and Immunity in Response to Tick Salivary Biogenic Substances and Red Meat Consumption in the Zebrafish Model.
Anaphylaxis
Alpha-Gal Allergy as a Cause of Intestinal Symptoms in a Gastroenterology Community Practice.
Anaphylaxis
Anaphylactic reactions to oligosaccharides in red meat: a syndrome in evolution.
Anaphylaxis
Anaphylaxis after vaccination in a pediatric patient: further implicating alpha-gal allergy.
Anaphylaxis
Anaphylaxis after zoster vaccine: Implicating alpha-gal allergy as a possible mechanism.
Anaphylaxis
Anaphylaxis to medications containing meat byproducts in an alpha-gal sensitized individual.
Anaphylaxis
Ascaris lumbricoides and ticks associated with sensitization to galactose ?1,3-galactose and elicitation of the alpha-gal syndrome.
Anaphylaxis
Association between lone star tick bites and increased alpha-gal sensitization: evidence from a prospective cohort of outdoor workers.
Anaphylaxis
Corrigendum to "Fatal anaphylaxis due to alpha-gal syndrome after initial cetuximab administration: The first forensic case report" [Legal Med. 51 (2021) 101878].
Anaphylaxis
Delayed Anaphylaxis to Mammalian Meat: A Fascinating Disease and Captivating Story.
Anaphylaxis
Delayed anaphylaxis, angioedema, or urticaria after consumption of red meat in patients with IgE antibodies specific for galactose-alpha-1,3-galactose.
Anaphylaxis
Delayed urticaria or anaphylaxis after consumption of red meat with evidence of alpha-gal sensitisation.
Anaphylaxis
Diagnosis of Life-Threatening Alpha-Gal Food Allergy Appears to Be Patient Driven.
Anaphylaxis
Fatal anaphylaxis due to alpha-gal syndrome after initial cetuximab administration: The first forensic case report.
Anaphylaxis
Galactose-?-1,3-galactose (alpha-gal) allergy: first pediatric case in a series of patients in Spain.
Anaphylaxis
Identification of alpha-gal sensitivity in patients with a diagnosis of idiopathic anaphylaxis.
Anaphylaxis
IgE antibodies to alpha-gal in the general adult population: relationship with tick bites, atopy, and cat ownership.
Anaphylaxis
Ingestion of mammalian meat and alpha-gal allergy: Clinical relevance in primary care.
Anaphylaxis
Isolated Gastrointestinal Alpha-gal Meat Allergy Is a Cause for Gastrointestinal Distress Without Anaphylaxis.
Anaphylaxis
Nationwide pharmacovigilance data for cetuximab-induced anaphylaxis and predictive model validation using prospective specific IgE detection.
Anaphylaxis
Near-fatal anaphylaxis with Kounis syndrome caused by Argas reflexus bite: a case report.
Anaphylaxis
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.
Anaphylaxis
Red meat desensitization in a child with delayed anaphylaxis due to alpha-Gal allergy.
Anaphylaxis
Safety of Intravenous Heparin for Cardiac Surgery in Patients With Alpha-Gal Syndrome.
Anaphylaxis
Successful intravenous heparin administration during coronary revascularization surgery in a patient with alpha-gal anaphylaxis history.
Anaphylaxis
Vaccination with Alpha-Gal Protects Against Mycobacterial Infection in the Zebrafish Model of Tuberculosis.
Anaphylaxis
[Alpha-Gal-associated delayed red meat anaphylaxis as an occupational 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.
Angiokeratoma
Angiokeratoma: Decision Making Methodology for the Diagnosis of Fabry Disease.
Angiokeratoma
Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement.
Angiokeratoma
Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy.
Angiokeratoma
Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.
Angiokeratoma
Later-Onset Fabry Disease: An Adult Variant Presenting With the Cramp-Fasciculation Syndrome.
Angiokeratoma
[A case of acroparesthesias, asthenia and fever. A new mutation in Fabry's disease].
Angiokeratoma
[Anderson-Fabry's disease: diagnostic problems, therapeutic relevance, and clinical experience in the treatment of the disease with enzyme replacement therapy in nephropathic patients]
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.
Arthritis
Summary of the OA biomarkers workshop 2010 - genetics and genomics: new targets in OA.
Arthritis
[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.
Atherosclerosis
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males.
Atherosclerosis
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.
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.
Carcinoma
Increased serum alpha-L-fucosidase and beta-N-acetylglucosaminidase activities in diabetic, cirrhotic and gastric cancer patients.
Carcinoma
Pancreatic carcinoma-specific immunotherapy using synthesised alpha-galactosyl epitope-activated immune responders: findings from a pilot study.
Carcinoma
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.
Carcinoma, Hepatocellular
Subchromosomal localization and order of GLA, PGK1, HPRT, and G6PD loci on the X chromosome of the American mink (Mustela vison).
Cardiomegaly
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.
Cardiomyopathies
Cardiovascular manifestations in Fabry's disease. A high incidence of mitral valve prolapse in hemizygotes and heterozygotes.
Cardiomyopathies
Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment.
Cardiomyopathies
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa.
Cardiomyopathies
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.
Cardiomyopathies
Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment.
Cardiomyopathies
Phospholipid storage in the myocardium of a unique Japanese case of idiopathic cardiomyopathy.
Cardiomyopathies
Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.
Cardiomyopathies
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.
Cardiomyopathies
[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)]
Cardiomyopathy, Hypertrophic
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
Cardiomyopathy, Hypertrophic
Effect of agalsidase alfa replacement therapy on fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis.
Cardiomyopathy, Hypertrophic
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa.
Cardiomyopathy, Hypertrophic
Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women.
Cardiomyopathy, Hypertrophic
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
Cardiomyopathy, Hypertrophic
Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A.
Cardiomyopathy, Hypertrophic
Is left ventricular hypertrabeculation/ noncompaction a cardiac manifestation of Fabry's disease?
Cardiomyopathy, Hypertrophic
[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.
Cerebellar Ataxia
[A case of chronically progressed peripheral neuropathy, spastic paraplegia, cerebellar ataxia and dementia associated with decreased alpha-galactosidase activity]
Cerebrovascular Disorders
Belgian Fabry study: prevalence of fabry disease in a cohort of 1000 young patients with cerebrovascular disease.
Cerebrovascular Disorders
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.
Cerebrovascular Disorders
Selective arterial distribution of cerebral hyperperfusion in Fabry disease.
Chickenpox
Gelatin-Containing Vaccines for Varicella, Zoster, Measles, Mumps, and Rubella Induce Basophil Activation in Patients with Alpha-Gal Syndrome.
Chickenpox
[Seroprevalence of antibodies against measles, rubella, mumps and varicella among school children in Madrid]
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.
Corneal Dystrophies, Hereditary
Later-Onset Fabry Disease: An Adult Variant Presenting With the Cramp-Fasciculation Syndrome.
Corneal Opacity
[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
Genzyme Genetics Cystic Fibrosis Mutation Analysis Now Tests for 97 mutations.
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.
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
[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.
Fabry Disease
A 3' splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease.
Fabry Disease
A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.
Fabry Disease
A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease.
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.
Fabry Disease
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.
Fabry Disease
A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.
Fabry Disease
A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene.
Fabry Disease
A detailed pathologic examination of heart tissue from three older patients with Anderson-Fabry disease on enzyme replacement therapy.
Fabry Disease
A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, alpha-galactosidase A.
Fabry Disease
A heterozygous female with Fabry disease due to a novel alpha-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.
Fabry Disease
A metabolomic study reveals novel plasma lyso-gb(3) analogs as fabry disease biomarkers.
Fabry Disease
A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
Fabry Disease
A modified lipid composition in Fabry disease leads to an intracellular block of the detergent-resistant membrane-associated dipeptidyl peptidase IV.
Fabry Disease
A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders.
Fabry Disease
A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.
Fabry Disease
A novel A97P amino acid substitution in alpha-galactosidase A leads to a classical Fabry disease with cardiac manifestations.
Fabry Disease
A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
Fabry Disease
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency.
Fabry Disease
A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease.
Fabry Disease
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.
Fabry Disease
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies.
Fabry Disease
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease.
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.
Fabry Disease
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.
Fabry Disease
A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation.
Fabry Disease
A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease.
Fabry Disease
A search for Fabry disease among male end-stage renal disease patients in Lebanon and a review of the literature.
Fabry Disease
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
Fabry Disease
A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts.
Fabry Disease
A study on serum IgE and clinical symptomatology of atopy in patients suffering from the lysosomal storage disorder Fabry disease.
Fabry Disease
A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder.
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.
Fabry Disease
AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction.
Fabry Disease
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
Fabry Disease
Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease.
Fabry Disease
Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.
Fabry Disease
Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice.
Fabry Disease
Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease.
Fabry Disease
Advanced Anderson-Fabry disease presenting with left ventricular apical aneurysm and ventricular tachycardia.
Fabry Disease
Advances in the management of Anderson-Fabry disease: enzyme replacement therapy.
Fabry Disease
Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease.
Fabry Disease
Agalsidase alfa and agalsidase beta in the treatment of Fabry disease: does the dose really matter?
Fabry Disease
Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety.
Fabry Disease
Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study.
Fabry Disease
Agalsidase alfa slows the decline in renal function in patients with Fabry disease.
Fabry Disease
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.
Fabry Disease
Agalsidase alfa--a preparation for enzyme replacement therapy in Anderson-Fabry disease.
Fabry Disease
Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice.
Fabry Disease
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency.
Fabry Disease
alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.
Fabry Disease
Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation.
Fabry Disease
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.
Fabry Disease
Alpha-galactosidase A-Tat fusion enhances storage reduction in hearts and kidneys of Fabry mice.
Fabry Disease
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
Fabry Disease
Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease.
Fabry Disease
Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta.
Fabry Disease
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
Fabry Disease
An Atypical Cardiac Manifestation of Fabry Disease from a Novel Pathological Variant on the GLA Gene.
Fabry Disease
An easy and sensitive method for determination of globotriaosylceramide (Gb3) from urinary sediment: utility for Fabry disease diagnosis and treatment monitoring.
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.
Fabry Disease
Analysis of placental tissue in Fabry disease with and without enzyme replacement therapy.
Fabry Disease
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.
Fabry Disease
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
Fabry Disease
Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.
Fabry Disease
Anderson-Fabry disease--family linkage studies using two polymorphic X-linked DNA probes.
Fabry Disease
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.
Fabry Disease
Angiokeratoma: Decision Making Methodology for the Diagnosis of Fabry Disease.
Fabry Disease
Anti-BlyS antibody reduces the immune reaction against enzyme and enhances the efficacy of enzyme replacement therapy in Fabry disease model mice.
Fabry Disease
Anti-CD25 targeted killing of bicistronically transduced cells: a novel safety mechanism against retroviral genotoxicity.
Fabry Disease
Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment.
Fabry Disease
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.
Fabry Disease
Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease.
Fabry Disease
Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention.
Fabry Disease
Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.
Fabry Disease
Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease.
Fabry Disease
Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement.
Fabry Disease
Atypical Distribution of Late Gadolinium Enhancement of the Left Ventricle on Cardiac Magnetic Resonance in Classical Anderson-Fabry Disease.
Fabry Disease
Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females.
Fabry Disease
Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice.
Fabry Disease
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.
Fabry Disease
Awareness of Fabry disease among rheumatologists-current status and perspectives.
Fabry Disease
Bilateral femoral head and distal tibial osteonecrosis in a patient with Fabry disease.
Fabry Disease
Biochemical basis of Fabry disease with emphasis on mitochondrial function and protein trafficking.
Fabry Disease
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.
Fabry Disease
Biological activities of the nortropane alkaloid, calystegine B2, and analogs: structure-function relationships.
Fabry Disease
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.
Fabry Disease
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases.
Fabry Disease
Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status.
Fabry Disease
Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition.
Fabry Disease
Cardiac evaluation of myocardial involvement in Anderson-Fabry disease by cardiac magnetic resonance imaging: a study of five patients.
Fabry Disease
Cardiac manifestations of Anderson-Fabry disease in children and adolescents.
Fabry Disease
Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.
Fabry Disease
Cardiac Microvascular Pathology in Fabry Disease. Evaluation of Endomyocardial Biopsies Before and After Enzyme Replacement Therapy.
Fabry Disease
Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease.
Fabry Disease
Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.
Fabry Disease
Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.
Fabry Disease
Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles.
Fabry Disease
Case report: is low ?-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?
Fabry Disease
Case report: long-term outcome post-heart transplantation in a woman with Fabry's disease.
Fabry Disease
Caveolin-associated accumulation of globotriaosylceramide in the vascular endothelium of alpha-galactosidase A null mice.
Fabry Disease
Cell Transplantation Combined with Recombinant Collagen Peptides for the Treatment of Fabry Disease.
Fabry Disease
Cellular and tissue distribution of intravenously administered agalsidase alfa.
Fabry Disease
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study.
Fabry Disease
Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy.
Fabry Disease
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
Fabry Disease
Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease.
Fabry Disease
Characterization of alpha-galactosidase isoenzymes in normal and Fabry human-Chinese Hamster somatic cell hybrids.
Fabry Disease
Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.
Fabry Disease
Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer.
Fabry Disease
Characterization of glycosylated and catalytically active recombinant human alpha-galactosidase A using a baculovirus vector.
Fabry Disease
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
Fabry Disease
Chemical diagnosis of Fabry's disease by fluorometric assay and fast atom bombardment/mass spectrometry.
Fabry Disease
Chiari type I malformation in four unrelated patients affected with Fabry disease.
Fabry Disease
Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease: case report and review of the literature.
Fabry Disease
Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease.
Fabry Disease
Circulating alpha-galactosidase A derived from transduced bone marrow cells: relevance for corrective gene transfer for Fabry disease.
Fabry Disease
Clearing of globotriaosylceramide from endothelial vessels of ocular conjunctiva in patients with Fabry disease treated with agalsidase alfa.
Fabry Disease
Clinical benefit in Fabry patients given enzyme replacement therapy--a case series.
Fabry Disease
Clinical features and genetic analysis of a Chinese kindred with Fabry's disease.
Fabry Disease
Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.
Fabry Disease
Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.
Fabry Disease
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.
Fabry Disease
Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).
Fabry Disease
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa.
Fabry Disease
Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.
Fabry Disease
Combined heart and kidney transplantation in a patient with Fabry disease in the enzyme replacement therapy era.
Fabry Disease
Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease.
Fabry Disease
Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.
Fabry Disease
Comparing the alpha-galactosidase A biochemical properties from healthy individuals and Fabry disease patients.
Fabry Disease
Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma.
Fabry Disease
Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice.
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.
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.
Fabry Disease
Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype-phenotype expression.
Fabry Disease
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Fabry 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.
Fabry Disease
Correction of cardiac abnormalities in fabry mice by direct intraventricular injection of a recombinant lentiviral vector that engineers expression of alpha-galactosidase A.
Fabry Disease
Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer.
Fabry Disease
Correction of the enzymic defect in cultured fibroblasts from patients with Fabry's disease: treatment with purified alpha-galactosidase from ficin.
Fabry Disease
Corrective effect on Fabry mice of yeast recombinant human alpha-galactosidase with N-linked sugar chains suitable for lysosomal delivery.
Fabry Disease
CORRIGENDUM: Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).
Fabry Disease
Crystallization and preliminary X-ray analysis of human alpha-galactosidase A complex.
Fabry Disease
Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases.
Fabry Disease
Cytoplasmic inclusions of Fabry's disease. Ultrastructural demonstration of their presence in urine sediment.
Fabry Disease
Decline of plasma brain natriuretic peptide during enzyme replacement therapy in a female patient with heterozygous Fabry's disease.
Fabry Disease
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
Fabry Disease
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.
Fabry Disease
Demographic characterization of Brazilian patients enrolled in the Fabry Registry.
Fabry Disease
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.
Fabry Disease
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
Fabry Disease
Detection of alpha-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography.
Fabry Disease
Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease.
Fabry Disease
Detection of preclinical left ventricular dysfunction in Fabry disease: the contribution of tissue Doppler.
Fabry Disease
Determination of globotriaosylceramide in plasma and urine by mass spectrometry.
Fabry Disease
Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease.
Fabry Disease
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.
Fabry Disease
Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients.
Fabry Disease
Disease manifestations and X inactivation in heterozygous females with Fabry disease.
Fabry Disease
Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice.
Fabry Disease
Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson-Fabry disease: a case series.
Fabry Disease
Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy.
Fabry Disease
Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey.
Fabry Disease
Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.
Fabry Disease
Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa.
Fabry Disease
Effect of acid-base changes on urinary hydrolases in Fabry's disease after renal transplantation.
Fabry Disease
Effect of agalsidase alfa replacement therapy on fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis.
Fabry Disease
Effect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry disease.
Fabry Disease
Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience.
Fabry Disease
Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper.
Fabry Disease
Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment.
Fabry Disease
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
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.
Fabry Disease
Effects of enzyme replacement therapy in patients with Anderson-Fabry disease: a prospective long term cardiac magnetic resonance imaging study.
Fabry Disease
Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).
Fabry Disease
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
Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease: preliminary data.
Fabry Disease
Effects of Orally Delivered Alpha-Galactosidase A on Gastrointestinal Symptoms in Patients With Fabry Disease.
Fabry Disease
Effects of switching from agalsidase Beta to agalsidase alfa in 10 patients with anderson-fabry disease.
Fabry Disease
Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients.
Fabry Disease
Efficient and rapid purification of recombinant human alpha-galactosidase A by affinity column chromatography.
Fabry Disease
Efficient correction of Fabry mice and patient cells mediated by lentiviral transduction of hematopoietic stem/progenitor cells.
Fabry Disease
Electrocardiographic signs of hypertrophy in fabry disease-associated hypertrophic cardiomyopathy.
Fabry Disease
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement.
Fabry Disease
Emerging strategies for the treatment of hereditary metabolic storage disorders.
Fabry Disease
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.
Fabry Disease
Endocytosis of lysosomal alpha-galactosidase A by cultured fibroblasts from patients with Fabry disease.
Fabry Disease
Endocytotic internalization of alpha-2-macroglobulin: alpha-galactosidase conjugate by cultured fibroblasts derived from Fabry hemizygote.
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.
Fabry Disease
Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector.
Fabry Disease
Enzyme replacement in Fabry disease: treatment of cultured skin fibroblasts with a purified alpha-galactosidase from ficin.
Fabry Disease
Enzyme replacement in Fabry endothelial cells and fibroblasts: uptake experiments and electron microscopical studies.
Fabry Disease
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease.
Fabry Disease
Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease.
Fabry Disease
Enzyme replacement therapy and intraepidermal innervation density in Fabry disease.
Fabry Disease
Enzyme replacement therapy and renal function in 201 patients with Fabry disease.
Fabry Disease
Enzyme Replacement Therapy Clears Gb3 Deposits from a Podocyte Cell Culture Model of Fabry Disease but Fails to Restore Altered Cellular Signaling.
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.
Fabry Disease
Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis.
Fabry Disease
Enzyme replacement therapy for Fabry disease: a systematic review of available evidence.
Fabry Disease
Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval.
Fabry Disease
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.
Fabry Disease
Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.
Fabry Disease
Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha.
Fabry Disease
Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement.
Fabry Disease
Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta.
Fabry Disease
Enzyme Replacement Therapy in Fabry Disease: Influence on Cardiac Manifestations.
Fabry Disease
Enzyme replacement therapy in Fabry's disease: recent advances and clinical applications.
Fabry Disease
Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study.
Fabry Disease
Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature.
Fabry Disease
Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series.
Fabry Disease
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.
Fabry Disease
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.
Fabry Disease
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease.
Fabry Disease
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data.
Fabry Disease
Enzyme replacement therapy with agalsidase alfa in pregnant women with Fabry disease.
Fabry Disease
Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease.
Fabry Disease
Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta.
Fabry Disease
Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.
Fabry Disease
Enzyme therapy in Fabry disease: severe adverse events associated with anti-agalsidase cross-reactive IgG antibodies.
Fabry Disease
Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease.
Fabry Disease
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease.
Fabry Disease
Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide.
Fabry Disease
Erratum to: Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment.
Fabry Disease
Establishment and characterization of Fabry disease endothelial cells with an extended lifespan.
Fabry Disease
Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease.
Fabry Disease
Evaluation of recombinant alpha-galactosidase A therapy for amelioration of the cardiovascular manifestations of Fabry disease: an important role for endomyocardial biopsy.
Fabry Disease
Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease.
Fabry Disease
Expression and characterization of glycosylated and catalytically active recombinant human alpha-galactosidase A produced in Pichia pastoris.
Fabry Disease
Expression of genes and their responses to enzyme replacement therapy in a Fabry disease mouse model.
Fabry Disease
Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy.
Fabry Disease
Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model.
Fabry Disease
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.
Fabry Disease
Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa.
Fabry Disease
Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued.
Fabry Disease
Fabry disease exacerbates renal interstitial fibrosis after unilateral ureteral obstruction via impaired autophagy and enhanced apoptosis.
Fabry Disease
Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy.
Fabry Disease
Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5.
Fabry Disease
Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia.
Fabry Disease
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
Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry Registry.
Fabry Disease
Fabry Disease in children and response to enzyme replacement therapy: results from FOS - the Fabry Outcome Survey.
Fabry Disease
Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report.
Fabry Disease
Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis.
Fabry Disease
Fabry disease in two brothers with proteinuria: A case report and Fabry disease review?.
Fabry Disease
Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women.
Fabry Disease
FABry Disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI): A new Fabry disease-specific gastrointestinal outcomes instrument.
Fabry Disease
Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months.
Fabry Disease
Fabry disease with cardiovascular manifestation in a patient with end-stage renal disease.
Fabry Disease
Fabry disease, enzyme replacement therapy and the significance of antibody responses.
Fabry Disease
Fabry disease-what cardiologists can learn from the nephrologist: a narrative review.
Fabry Disease
Fabry disease. Classic hemizygote and residual alpha-galactosidase A activity.
Fabry Disease
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
Fabry Disease
Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients.
Fabry Disease
Fabry disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations.
Fabry Disease
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
Fabry Disease
Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy.
Fabry Disease
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).
Fabry Disease
Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.
Fabry Disease
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
Fabry Disease
Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.
Fabry Disease
Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification.
Fabry Disease
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Fabry Disease
Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.
Fabry Disease
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
Fabry Disease
Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement.
Fabry Disease
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
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Fabry Disease
Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.
Fabry Disease
Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.
Fabry Disease
Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.
Fabry Disease
Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice.
Fabry Disease
Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.
Fabry Disease
Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts.
Fabry Disease
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
Fabry Disease
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Fabry Disease
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
Fabry Disease
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Fabry Disease
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
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
Fabry disease: ultrastructural lectin histochemical analyses of lysosomal deposits.
Fabry Disease
Fabry disease: what the cardiologist should consider in non-cardiac screening, diagnosis, and management-narrative review.
Fabry Disease
Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed.
Fabry Disease
Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?
Fabry Disease
Fabry's disease presenting as ventricular tachycardia and left ventricular 'hypertrophy'.
Fabry Disease
Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.
Fabry Disease
Fabry's disease. Report of the case diagnosed on the basis of routine ultrastructural examination of the renal biopsy.
Fabry Disease
Fabry's disease: clinical, pathologic and biochemical manifestations in two Chinese males.
Fabry Disease
Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes.
Fabry Disease
Fabry's disease: normal alpha-galactosidase activity and urinary-sediment glycosphingolipid levels in two obligate heterozygotes.
Fabry Disease
Failure to correct the metabolic defect by renal allotransplantion in Fabry's disease.
Fabry Disease
Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males.
Fabry Disease
Fast fingerprinting by MALDI-TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry disease.
Fabry Disease
Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing.
Fabry Disease
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Fabry Disease
Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes.
Fabry Disease
Fibrosis: a key feature of Fabry disease with potential therapeutic implications.
Fabry Disease
First phenotypic description of a female patient with c.610?T > C variant of GLA: a renal-predominant presentation of Fabry disease.
Fabry Disease
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.
Fabry Disease
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.
Fabry Disease
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
Fabry Disease
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.
Fabry Disease
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.
Fabry Disease
Functional and structural nerve fiber findings in heterozygote patients with Fabry disease.
Fabry Disease
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Fabry Disease
Functional studies of new GLA gene mutations leading to conformational Fabry disease.
Fabry Disease
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
Fabry Disease
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.
Fabry Disease
Gastrointestinal involvement in Fabry disease. So important, yet often neglected.
Fabry Disease
Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy.
Fabry Disease
Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy.
Fabry Disease
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses.
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.
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.
Fabry Disease
Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.
Fabry Disease
Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.
Fabry Disease
Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients.
Fabry Disease
Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach.
Fabry Disease
Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.
Fabry Disease
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.
Fabry Disease
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.
Fabry Disease
Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease.
Fabry Disease
Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy.
Fabry Disease
Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase.
Fabry Disease
Hearing improvement in patients with Fabry disease treated with agalsidase alfa.
Fabry Disease
Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy.
Fabry Disease
Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.
Fabry Disease
High and sustained transgene expression in vivo from plasmid vectors containing a hybrid ubiquitin promoter.
Fabry Disease
High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.
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.
Fabry Disease
Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
Fabry Disease
Histologic and electron microscopy findings in myocardium of treated Fabry disease.
Fabry Disease
Histopathologic findings of cornea verticillata in a woman heterozygous for Fabry's disease.
Fabry Disease
Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction.
Fabry Disease
HIV-2 derived lentiviral vectors: gene transfer in Parkinson's and Fabry disease models in vitro.
Fabry Disease
Home infusion program for Fabry disease: experience with agalsidase alfa in Argentina.
Fabry Disease
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.
Fabry Disease
Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands.
Fabry Disease
Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.
Fabry Disease
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.
Fabry Disease
Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report.
Fabry Disease
Hyperbaric oxygen treatment restores sudden hearing loss in a patient with Fabry disease.
Fabry Disease
Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A.
Fabry Disease
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
Fabry Disease
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
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.
Fabry Disease
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease.
Fabry Disease
Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients.
Fabry Disease
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Fabry Disease
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
Fabry Disease
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA).
Fabry Disease
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
Fabry Disease
Immunoelectron-microscopic detection of globotriaosylceramide accumulated in the skin of patients with Fabry disease.
Fabry Disease
Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of Fabry disease patients.
Fabry Disease
Immunohistochemical characterization of transgenic mice highly expressing human lysosomal alpha-galactosidase.
Fabry Disease
Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease.
Fabry Disease
Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease.
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.
Fabry Disease
Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease.
Fabry Disease
Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study.
Fabry Disease
Improvement of cardiac hypertrophy and ventricular function in a man with Fabry disease by treatment with recombinant alpha-galactosidase A.
Fabry Disease
In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives.
Fabry Disease
In vitro study of encapsulation therapy for Fabry disease using genetically engineered CHO cell line.
Fabry Disease
Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model.
Fabry Disease
Increased Serum Interleukin-6 and Tumor Necrosis Factor Alpha Levels in Fabry Disease: Correlation with Disease Burden.
Fabry Disease
Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease.
Fabry Disease
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease.
Fabry Disease
Inner ear involvement in Anderson-Fabry disease: long-term follow-up during enzyme replacement therapy.
Fabry Disease
Inner ear pathology of alpha-galactosidase A deficient mice, a model of Fabry disease.
Fabry Disease
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
Fabry Disease
Investigation of the alpha-galactosidase deficiency in Fabry's disease using antibodies against the purified enzyme.
Fabry Disease
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.
Fabry Disease
Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy.
Fabry Disease
Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.
Fabry Disease
Kidney transplantation and enzyme alpha-galactosidase A therapy in patient with Fabry disease: a case report.
Fabry Disease
Later-Onset Fabry Disease: An Adult Variant Presenting With the Cramp-Fasciculation Syndrome.
Fabry Disease
Limited effects of long-term enzyme replacement therapy on the cardiac conduction system in Fabry disease.
Fabry Disease
Local and global cerebral blood flow and glucose utilization in the alpha-galactosidase A knockout mouse model of Fabry disease.
Fabry Disease
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.
Fabry Disease
Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.
Fabry Disease
Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease.
Fabry Disease
Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer.
Fabry Disease
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.
Fabry Disease
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.
Fabry Disease
Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment.
Fabry Disease
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.
Fabry Disease
Long-term inhibition of glycosphingolipid accumulation in Fabry model mice by a single systemic injection of AAV1 vector in the neonatal period.
Fabry Disease
Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer.
Fabry Disease
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting.
Fabry Disease
Loss of electron-dense lamellar material from Fabry's disease fibroblasts after enzyme replacement.
Fabry Disease
Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients.
Fabry Disease
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.
Fabry Disease
Lysosomal leukocyte beta-D-glucuronidase during enzyme replacement therapy in Fabry disease.
Fabry Disease
Macular Impairment in Fabry Disease: A Morpho-functional Assessment by Swept-Source OCT Angiography and Focal Electroretinography.
Fabry Disease
Major cardiovascular adverse events in Fabry disease patients receiving agalsidase alfa.
Fabry Disease
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.
Fabry Disease
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.
Fabry Disease
Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.
Fabry Disease
Metabolic disorders characterized by angiokeratomas and neurologic dysfunction.
Fabry Disease
Methotrexate reduces antibody responses to recombinant human alpha-galactosidase A therapy in a mouse model of Fabry disease.
Fabry Disease
Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.
Fabry Disease
Migalastat Tissue Distribution: Extrapolation From Mice to Humans Using Pharmacokinetic Modeling and Comparison With Agalsidase Beta Tissue Distribution in Mice.
Fabry Disease
Misdiagnosis of multiple sclerosis in a female heterozygote with Fabry's disease.
Fabry Disease
Missense mutation in exon 2 of alpha-galactosidase A in a patient with Fabry disease.
Fabry Disease
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Fabry Disease
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Fabry Disease
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
Fabry Disease
Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease.
Fabry Disease
Molecular interaction of imino sugars with human alpha-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease.
Fabry Disease
Molecular pathology of Fabry's disease. Physical and kinetic properties of alpha-galactosidase A in cultured human endothelial cells.
Fabry Disease
Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide.
Fabry Disease
Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease.
Fabry Disease
Multidimensional analysis of clinical symptoms in patients with Fabry's disease.
Fabry Disease
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.
Fabry Disease
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
Fabry Disease
Myocardial Alterations in the Murine Model of Fabry Disease Can Be Reversed by Enzyme Replacement Therapy.
Fabry Disease
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
Fabry Disease
Naked plasmid DNA-based alpha-galactosidase A gene transfer partially reduces systemic accumulation of globotriaosylceramide in Fabry mice.
Fabry Disease
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
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.
Fabry Disease
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.
Fabry Disease
Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy.
Fabry Disease
Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options.
Fabry Disease
Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.
Fabry Disease
New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease.
Fabry Disease
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
Fabry Disease
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.
Fabry Disease
Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry.
Fabry Disease
Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases.
Fabry Disease
Nonsense mutation in exon 2 of the alpha-galactosidase A gene in a patient with Fabry disease.
Fabry Disease
Normal hearing in alpha-galactosidase A-deficient mice, the mouse model for Fabry disease.
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.
Fabry Disease
Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure.
Fabry Disease
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
Fabry Disease
Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.
Fabry Disease
Novel Urinary Lyso-Gb3-Related Biomarkers for Fabry Disease Targeted by Metabolomics.
Fabry Disease
Nuclear-targeted chimeric vector enhancing nonviral gene transfer into skeletal muscle of Fabry mice in vivo.
Fabry Disease
Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey.
Fabry Disease
Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease.
Fabry Disease
Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.
Fabry Disease
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active ?-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.
Fabry Disease
Pain related channels are differentially expressed in neuronal and non-neuronal cells of glabrous skin of fabry knockout male mice.
Fabry Disease
Paricalcitol as an Antiproteinuric Agent Can Result in the Deterioration of Renal and Heart Function in a Patient with Fabry Disease.
Fabry Disease
Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors.
Fabry Disease
Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing.
Fabry Disease
Pathologic endothelial response and impaired function of circulating angiogenic cells in patients with Fabry disease.
Fabry Disease
Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement.
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.
Fabry Disease
Persistent Alpha-galactosidase A Deficiency After Simultaneous Liver-kidney Transplantation in a Patient With Fabry Disease.
Fabry Disease
Pharmacokinetics, safety, and tolerability following single-dose migalastat hydrochloride (GR181413A/AT1001) in healthy male Japanese subjects.
Fabry Disease
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.
Fabry Disease
Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies.
Fabry Disease
Phospholipid storage in the myocardium of a unique Japanese case of idiopathic cardiomyopathy.
Fabry Disease
Physical mapping shows close linkage between the alpha-galactosidase A gene (GLA) and the DXS178 locus.
Fabry Disease
Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy.
Fabry Disease
Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.
Fabry Disease
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
Fabry Disease
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
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.
Fabry Disease
Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease.
Fabry Disease
Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease.
Fabry Disease
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
Fabry Disease
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
Fabry Disease
Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information.
Fabry Disease
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.
Fabry Disease
Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy.
Fabry Disease
Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease.
Fabry Disease
Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey.
Fabry Disease
Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.
Fabry Disease
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.
Fabry Disease
Prevalence of Fabry Disease in Young Patients with Cryptogenic Ischemic Stroke.
Fabry Disease
Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family.
Fabry Disease
Production in yeast of alpha-galactosidase A, a lysosomal enzyme applicable to enzyme replacement therapy for Fabry disease.
Fabry Disease
Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report.
Fabry Disease
Prompt Agalsidase Alfa Therapy Initiation is Associated with Improved Renal and Cardiovascular Outcomes in a Fabry Outcome Survey Analysis.
Fabry Disease
Properties of immobilized fig alpha-galactosidase and effect on ceramide-3 content of plasma from patients with Fabry's disease.
Fabry Disease
Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.
Fabry Disease
Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.
Fabry Disease
Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study.
Fabry Disease
Purification and characterization of human alpha-galactosidase A expressed in insect cells using a baculovirus vector.
Fabry Disease
Quantitative analysis of cerebral vasculopathy in patients with Fabry disease.
Fabry Disease
Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit.
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.
Fabry Disease
Rapid Clathrin-Mediated Uptake of Recombinant ?-Gal-A to Lysosome Activates Autophagy.
Fabry Disease
Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.
Fabry Disease
Rare presentation of Fabry disease as 'burnt-out' hypertrophic cardiomyopathy.
Fabry Disease
Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA.
Fabry Disease
Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults.
Fabry Disease
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.
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.
Fabry Disease
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy.
Fabry Disease
Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation.
Fabry Disease
Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.
Fabry Disease
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy.
Fabry Disease
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.
Fabry Disease
Relationship of the multiple forms of human alpha-D-galactosidase and alpha-D-fucosidase in the normal and in Fabry's disease.
Fabry Disease
Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease.
Fabry Disease
Relief of Left Ventricular Outflow Obstruction by Cibenzoline in a Patient With Fabry's Disease-A Case Report.
Fabry Disease
Remarkable variability in renal disease in a large Slovenian family with Fabry disease.
Fabry Disease
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
Fabry Disease
Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease.
Fabry Disease
Retroviral coexpression of a multidrug resistance gene (MDR1) and human alpha-galactosidase A for gene therapy of Fabry disease.
Fabry Disease
Retrovirus-mediated transfer of human alpha-galactosidase A gene to human CD34+ hematopoietic progenitor cells.
Fabry Disease
Rhythmic changes in Fabry disease: Inversion and non-oscillatory pattern in 6-sulfatoxymelatonin daily profile.
Fabry Disease
Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
Fabry Disease
Safety and effectiveness of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: Post-marketing surveillance in Japan.
Fabry Disease
Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease.
Fabry Disease
Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.
Fabry Disease
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease.
Fabry Disease
Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease.
Fabry Disease
Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.
Fabry Disease
Screening for Fabry Disease in Young Strokes in the Australian Stroke Clinical Registry (AuSCR).
Fabry Disease
Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers.
Fabry Disease
Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.
Fabry Disease
Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task.
Fabry Disease
Sequencing and characterization of the porcine alpha-galactosidase A gene: towards the generation of a porcine model for Fabry disease.
Fabry Disease
Severe infusion reactions to fabry enzyme replacement therapy: rechallenge after tracheostomy.
Fabry Disease
Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease.
Fabry Disease
Simple and efficient screening of patients with Fabry disease with high resolution melting.
Fabry Disease
Simultaneous multicystic kidney and Anderson-Fabry disease: 2 separate entities or same side of the coin.
Fabry Disease
Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.
Fabry Disease
Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.
Fabry Disease
Social-adaptive and psychological functioning of patients affected by Fabry disease.
Fabry Disease
Specific alpha-galactosidase inhibitors, N-methylcalystegines--structure/activity relationships of calystegines from Lycium chinense.
Fabry Disease
SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry disease.
Fabry Disease
Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry.
Fabry Disease
Strong increase of leukocyte apha-galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy.
Fabry Disease
Structural and functional changes in peripheral vasculature of Fabry patients.
Fabry Disease
Structural characterization of mutant alpha-galactosidases causing Fabry disease.
Fabry Disease
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.
Fabry Disease
Successful desensitization with agalsidase alfa in 2 brothers with Fabry disease.
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 (®)).
Fabry Disease
Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.
Fabry Disease
Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme.
Fabry Disease
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.
Fabry Disease
Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with Fabry disease in Latin America.
Fabry Disease
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data.
Fabry Disease
Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: a systematic review and meta-analysis of the literature.
Fabry Disease
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.
Fabry Disease
Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase.
Fabry Disease
Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.
Fabry Disease
Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study.
Fabry Disease
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies.
Fabry Disease
The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients.
Fabry Disease
The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.
Fabry Disease
The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.
Fabry Disease
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Fabry Disease
The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease.
Fabry Disease
The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy.
Fabry Disease
The fate of internalized alpha-2-macroglobulin: alpha-galactosidase conjugate in fibroblasts from Fabry's hemizygote.
Fabry Disease
The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.
Fabry Disease
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
Fabry Disease
The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease.
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.
Fabry Disease
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
Fabry Disease
The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.
Fabry Disease
The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)--investigation of symptomatic and presymptomatic patients.
Fabry Disease
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
Fabry Disease
The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease.
Fabry Disease
The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts.
Fabry Disease
The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease.
Fabry Disease
The properties of alpha-galactosidase remaining in kidney and liver of patients with Fabry's disease.
Fabry Disease
The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
Fabry Disease
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.
Fabry Disease
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.
Fabry Disease
The Safety of Agalsidase Alfa Enzyme Replacement Therapy in Canadian Patients with Fabry Disease Following Implementation of a Bioreactor Process.
Fabry Disease
The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease.
Fabry Disease
The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease.
Fabry 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.
Fabry Disease
The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease.
Fabry Disease
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.
Fabry Disease
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Fabry Disease
Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease.
Fabry Disease
To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model.
Fabry Disease
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.
Fabry Disease
Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.
Fabry Disease
Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg.
Fabry Disease
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Fabry Disease
Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.
Fabry Disease
Two cases of Fabry's disease: a hemizygote with a point mutation in the alpha-galactosidase A gene and his relative.
Fabry Disease
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.
Fabry Disease
Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
Fabry Disease
Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease.
Fabry Disease
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
Fabry Disease
Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
Fabry Disease
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.
Fabry Disease
Ultrastructural study of renal involvement in two females with Anderson-Fabry disease.
Fabry Disease
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
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.
Fabry Disease
Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease.
Fabry Disease
Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy.
Fabry Disease
Uptake of lysosomal enzymes by human fibroblasts: lack of uptake of fungal or plant glycosidases in comparison with a mammalian enzyme.
Fabry Disease
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.
Fabry Disease
Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes.
Fabry Disease
Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells.
Fabry Disease
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.
Fabry Disease
Variable phenotypic presentations of renal involvement in Fabry disease: a case series.
Fabry Disease
Vascular complications of Fabry disease: enzyme replacement and other therapies.
Fabry Disease
Vascular dysfunction in the alpha-galactosidase A-knockout mouse is an endothelial cell-, plasma membrane-based defect.
Fabry Disease
Vasculopathy in patients with Fabry disease: current controversies and research directions.
Fabry Disease
Ventricular fibrillation associated with vasospastic angina pectoris in Fabry disease: a case report.
Fabry Disease
Ventricular fibrillation refractory to automatic internal cardiac defibrillator in Fabry's disease. Review of cardiovascular manifestations.
Fabry Disease
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.
Fabry Disease
[A case of acroparesthesias, asthenia and fever. A new mutation in Fabry's disease].
Fabry Disease
[A case of Anderson-Fabry disease: a multidisciplinary approach for diagnosis and follow up].
Fabry Disease
[Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy]
Fabry Disease
[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)]
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]
Fabry Disease
[Angiokeratoma corporis diffusum (Fabry's disease). Biochemical diagnosis in plasma]
Fabry Disease
[Angiokeratoma corporis diffusum (Fabry's disease). Update. Apropos of 2 cases]
Fabry Disease
[Atypical symptoms of Fabry's disease: sudden bilateral deafness, lymphoedema and Lown-Ganong-Levine syndrome]
Fabry Disease
[Clinical development of agalsidase-beta for the treatment of Fabry disease.]
Fabry Disease
[Combined heart and kidney transplantation in Fabry's disease: Long-term outcomes in two patients].
Fabry Disease
[Comparison of patients from a Spanish Registry of Fabry disease in two periods.]
Fabry Disease
[Diagnostic problems in a 17-year-old patient with gastrointestinal manifestations of Fabry disease].
Fabry Disease
[Early acroparesthesia in females: a sign disclosing heterozygote Fabry disease]
Fabry Disease
[Effect of alpha-galactosidase A deficiency on FV leiden fibrin deposition and thrombosis in mice]
Fabry Disease
[Effect of enzyme replacement therapy (ERT) on renal function of patients with Fabry's disease]
Fabry Disease
[End-stage cardiac manifestations and autopsy findings in patients with cardiac fabry disease]
Fabry Disease
[Fabry disease in Spain: first analysis of the response to enzyme replacement therapy]
Fabry Disease
[Fabry disease: clinic and enzymatic diagnosis of homozygous and heterozygous. New therapeutic prospects.]
Fabry Disease
[Fabry disease: proposed guidelines from a French expert group for its diagnosis, treatment and follow-up]
Fabry Disease
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects]
Fabry Disease
[Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations]
Fabry Disease
[Fabry's disease with malocclusion and acromegalic-appearance: clinical and electromicroscopic studies (author's transl)]
Fabry Disease
[Fabry's disease. An orphan disease that has found a solution: enzymatic replacement with alpha-galactosidase]
Fabry Disease
[Fabry's disease: new therapeutic options for this lysosomal storage disorder]
Fabry Disease
[Gene therapy of Gaucher's and Fabry's diseases: current status and prospects]
Fabry Disease
[Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management].
Fabry Disease
[Interest and limits of determination of a-galactosidase A enzymatic activity in population at risk for Fabry disease.]
Fabry Disease
[Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy]
Fabry Disease
[Molecular forms of human leukocytic alpha-galactosidase and N-acetyl-alpha-galactosaminidase]
Fabry Disease
[Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease]
Fabry Disease
[Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease]
Fabry Disease
[Neuropathic pain in a young female patient with Fabry's disease: a new mutation of the alpha-galactosidase A gene]
Fabry Disease
[Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease]
Fabry Disease
[Pathophysiological aspects of brain structural disturbances in patients with Fabry disease: literature review]
Fabry Disease
[Pedigree investigation of clinicopathologic features and alpha-galactosidase A gene mutation in a family with Fabry disease].
Fabry Disease
[Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family]
Fabry Disease
[Psychiatric and neuropsychological signs and symptoms in patients with fabry disease: literature review]
Fabry Disease
[Substrate specificity of multiple forms of human alpha-D-galactosidase and alpha-D-fucosidase]
Fabry Disease
[The cochlea in Fabry disease: a sensorineural hearing loss model of vascular origin?]
Fabry Disease
[The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy].
Fabry Disease
[The prevalence of Fabry's disease among male patients on hemodialysis in Lithuania (A screening study).]
Fabry Disease
[The unusual couple: a clinical case of coexistence between aHUS and Fabry's disease].
Fabry Disease
[Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood].
Food Hypersensitivity
'Doc, will I ever eat steak again?': diagnosis and management of alpha-gal syndrome.
Food Hypersensitivity
Delayed anaphylaxis to alpha-gal, an oligosaccharide in mammalian meat.
Food Hypersensitivity
Delayed anaphylaxis, angioedema, or urticaria after consumption of red meat in patients with IgE antibodies specific for galactose-alpha-1,3-galactose.
Food Hypersensitivity
Diagnosis of Life-Threatening Alpha-Gal Food Allergy Appears to Be Patient Driven.
Food Hypersensitivity
Discovery of Alpha-Gal-Containing Antigens in North American Tick Species Believed to Induce Red Meat Allergy.
Food Hypersensitivity
Food Allergy: Our Evolving Understanding of Its Pathogenesis, Prevention, and Treatment.
Food Hypersensitivity
IL-4 and IFN-gamma level in blood serum of children with food allergy.
Food Hypersensitivity
Invited Commentary: Alpha-Gal Allergy: Tip of the Iceberg to a Pivotal Immune Response.
Food Hypersensitivity
Patients' Health Information Practices and Perceptions of Provider Knowledge in the Case of the Newly Discovered Alpha-gal Food Allergy.
Food Hypersensitivity
Possible Role of Environmental Factors in the Development of Food Allergies.
Food Hypersensitivity
The clinical presentation of alpha-gal allergy among pediatric patients with food allergy in southwest Missouri.
Food Hypersensitivity
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.
Gastrointestinal Diseases
A thermostable alpha-galactosidase from Lactobacillus fermentum CRL722: genetic characterization and main properties.
Gastrointestinal Diseases
Lactobacillus fermentum CRL 722 is able to deliver active alpha-galactosidase activity in the small intestine of rats.
Gastrointestinal Diseases
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.
Gaucher Disease
Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases.
Gaucher Disease
Emerging strategies for the treatment of hereditary metabolic storage disorders.
Gaucher Disease
Enzyme replacement therapy "drug holiday": Results from an unexpected shortage of an orphan drug supply in Australia.
Gaucher Disease
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources.
Gaucher Disease
Fabry disease in the era of enzyme replacement therapy: a renal perspective.
Gaucher Disease
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses.
Gaucher Disease
Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients.
Gaucher Disease
Imiglucerase in the treatment of Gaucher disease: a history and perspective.
Gaucher 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.
Gaucher Disease
Individualization of long-term enzyme replacement therapy for Gaucher disease.
Gaucher Disease
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.
Gaucher Disease
Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease.
Gaucher Disease
Safety and efficacy of velaglucerase alfa replacement therapy for patients with type 1 Gaucher disease.
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.
Genetic Diseases, Inborn
Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval.
Genetic Diseases, Inborn
Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy.
Genetic Diseases, Inborn
Fabry's disease presenting as ventricular tachycardia and left ventricular 'hypertrophy'.
Genetic Diseases, Inborn
Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.
Genetic Diseases, Inborn
Fabry's disease: clinical, pathologic and biochemical manifestations in two Chinese males.
Genetic Diseases, Inborn
Fibrosis: a key feature of Fabry disease with potential therapeutic implications.
Genetic Diseases, Inborn
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.
Genetic Diseases, Inborn
New mutation in Fabry disease: c.448delG, first phenotypic description.
Genetic Diseases, Inborn
Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.
Genetic Diseases, Inborn
Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information.
Genetic Diseases, Inborn
Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
Genetic Diseases, Inborn
Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.
Genetic Diseases, Inborn
Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease.
Genetic Diseases, Inborn
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.
Genetic Diseases, Inborn
[Clinical development of agalsidase-beta for the treatment of Fabry disease.]
Genetic Diseases, X-Linked
Combined heart and kidney transplantation in a patient with Fabry disease in the enzyme replacement therapy era.
Glomerulonephritis, IGA
Antimouse laminin antibodies in IgA nephropathy and various glomerular diseases.
Glomerulonephritis, IGA
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
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases.
Glycogen Storage Disease Type II
Establishing Pompe Disease Newborn Screening: The Role of Industry.
Glycogen Storage Disease Type II
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Glycogen Storage Disease Type II
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Glycogen Storage Disease Type II
[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 Loss
Hearing improvement in patients with Fabry disease treated with agalsidase alfa.
Hearing Loss
Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy.
Hearing Loss
Inner ear pathology of alpha-galactosidase A deficient mice, a model of Fabry disease.
Hearing Loss
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.
Heart Diseases
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease.
Heart Diseases
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.
Heart Failure
Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment.
Heart Failure
Histologic and electron microscopy findings in myocardium of treated 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.
Hepatitis C
[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.
Herpes Zoster
Gelatin-Containing Vaccines for Varicella, Zoster, Measles, Mumps, and Rubella Induce Basophil Activation in Patients with Alpha-Gal Syndrome.
Hyperglycemia
Immunoregulatory effect of anti-thymocyte globulin monotherapy on peripheral lymphoid tissues of non-obese diabetic mice.
Hyperglycemia
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.
Hypersensitivity
A BULL IN A PILL SHOP: ALPHA-GAL ALLERGY COMPLICATING TREATMENT OPTIONS FOR POSTPROCEDURAL HYPOTHYROIDISM.
Hypersensitivity
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.
Hypersensitivity
Accurate assessment of alpha-gal syndrome using cetuximab and bovine thyroglobulin-specific IgE.
Hypersensitivity
Allergic Reactions and Immunity in Response to Tick Salivary Biogenic Substances and Red Meat Consumption in the Zebrafish Model.
Hypersensitivity
Allergic response to medical products in patients with alpha-gal syndrome.
Hypersensitivity
Allergy in frequent travelers: the alpha-gal story and the first UK case series.
Hypersensitivity
Allergy to Mammalian Meat Linked to Alpha-Gal Syndrome Potentially After Tick Bite in the Amazon: A Case Series.
Hypersensitivity
Alpha gal specific IgE positivity due to tick bites and red meat allergy: the first case report in Turkey.
Hypersensitivity
Alpha-Gal Allergy as a Cause of Intestinal Symptoms in a Gastroenterology Community Practice.
Hypersensitivity
Alpha-gal antibody due to Lone Star tick bite, a unique case of allergic reaction.
Hypersensitivity
Anaphylaxis after vaccination in a pediatric patient: further implicating alpha-gal allergy.
Hypersensitivity
Anaphylaxis after zoster vaccine: Implicating alpha-gal allergy as a possible mechanism.
Hypersensitivity
Aortic homograft for aortic valve replacement in patient with Alpha-Gal allergy.
Hypersensitivity
Ascaris lumbricoides and ticks associated with sensitization to galactose ?1,3-galactose and elicitation of the alpha-gal syndrome.
Hypersensitivity
Characterization of the anti-?-Gal antibody profile in association with Guillain-Barré syndrome, implications for tick-related allergic reactions.
Hypersensitivity
Delayed immediate-type hypersensitivity to red meat and innards: current insights into a novel disease entity.
Hypersensitivity
Delayed urticaria or anaphylaxis after consumption of red meat with evidence of alpha-gal sensitisation.
Hypersensitivity
Diagnosis & management of alpha-gal syndrome: lessons from 2,500 patients.
Hypersensitivity
Diagnosis of Life-Threatening Alpha-Gal Food Allergy Appears to Be Patient Driven.
Hypersensitivity
Diagnostic testing for galactose-alpha-1,3-galactose, United States, 2010 to 2018.
Hypersensitivity
Galactose-?-1,3-galactose (alpha-gal) allergy: first pediatric case in a series of patients in Spain.
Hypersensitivity
Gelatin-Containing Vaccines for Varicella, Zoster, Measles, Mumps, and Rubella Induce Basophil Activation in Patients with Alpha-Gal Syndrome.
Hypersensitivity
IgE antibodies to alpha-gal in foresters and forest workers from La Rioja, North of Spain.
Hypersensitivity
Increased rates of cetuximab reactions in tick prevalent regions and a proposed protocol for risk mitigation.
Hypersensitivity
Ingestion of mammalian meat and alpha-gal allergy: Clinical relevance in primary care.
Hypersensitivity
Intraoperative Anaphylaxis in Response to Hemostatic Agents With Protein Derivatives.
Hypersensitivity
Intraoperative anaphylaxis to gelatin-based hemostatic agents: a case report.
Hypersensitivity
Invited Commentary: Alpha-Gal Allergy: Tip of the Iceberg to a Pivotal Immune Response.
Hypersensitivity
Isolated Gastrointestinal Alpha-gal Meat Allergy Is a Cause for Gastrointestinal Distress Without Anaphylaxis.
Hypersensitivity
Mammalian Meat Allergy Accompanied by Venom Allergy: A Review of 12 Cases.
Hypersensitivity
Near-fatal anaphylaxis with Kounis syndrome caused by Argas reflexus bite: a case report.
Hypersensitivity
Patients' Health Information Practices and Perceptions of Provider Knowledge in the Case of the Newly Discovered Alpha-gal Food Allergy.
Hypersensitivity
Plaque Rupture-Induced Myocardial Infarction and Mechanical Circulatory Support in Alpha-Gal Allergy.
Hypersensitivity
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.
Hypersensitivity
Premature Bioprosthetic Aortic Valve Degeneration Associated with Allergy to Galactose-Alpha-1,3-Galactose.
Hypersensitivity
Prevalence and Impact of Type I Sensitization to Alpha-Gal in Patients Consulting an Allergy Unit.
Hypersensitivity
Red meat desensitization in a child with delayed anaphylaxis due to alpha-Gal allergy.
Hypersensitivity
Regional and temporal awareness of alpha-gal allergy: An infodemiological analysis using Google Trends.
Hypersensitivity
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.
Hypersensitivity
Safety of Intravenous Heparin for Cardiac Surgery in Patients With Alpha-Gal Syndrome.
Hypersensitivity
Skin prick test and basophil reactivity to cetuximab in patients with IgE to alpha-gal and allergy to red meat.
Hypersensitivity
Speculations on red meat allergy due to Alpha-Gal; its connection to coronary artery disease, suggested dietary guidance and allergy testing.
Hypersensitivity
The basophil activation test differentiates between patients with alpha-gal syndrome and asymptomatic alpha-gal sensitization.
Hypersensitivity
The clinical presentation of alpha-gal allergy among pediatric patients with food allergy in southwest Missouri.
Hypersensitivity
Tick exposures and alpha-gal syndrome: A systematic review of the evidence.
Hypersensitivity
Tick salivary gland extract induces alpha-gal syndrome in alpha-gal deficient mice.
Hypersensitivity
Tolerance of porcine pancreatic enzymes despite positive skin testing in alpha-gal allergy.
Hypersensitivity
What Does a Red Meat Allergy Have to Do With Anesthesia? Perioperative Management of Alpha-Gal Syndrome.
Hypersensitivity
[Alpha-Gal-associated delayed red meat anaphylaxis as an occupational disease].
Hypersensitivity
[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.
Hypersensitivity, Immediate
The first reported cases of meat allergy following tick bites in the UK.
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.
Hypertrophy, Left Ventricular
Agalsidase alfa for enzyme-replacement therapy in Fabry disease.
Hypertrophy, Left Ventricular
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
Hypertrophy, Left Ventricular
Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.
Hypertrophy, Left Ventricular
Early detection of Fabry cardiomyopathy by tissue Doppler imaging.
Hypertrophy, Left Ventricular
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.
Hypertrophy, Left Ventricular
Fabry disease in patients with hypertrophic cardiomyopathy (HCM).
Hypertrophy, Left Ventricular
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.
Hypertrophy, Left Ventricular
Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment.
Hypertrophy, Left Ventricular
The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients.
Hypertrophy, Left Ventricular
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.
Hypohidrosis
A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
Hypohidrosis
Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement.
Hypohidrosis
Later-Onset Fabry Disease: An Adult Variant Presenting With the Cramp-Fasciculation Syndrome.
Hypohidrosis
Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response.
Hypothyroidism
A BULL IN A PILL SHOP: ALPHA-GAL ALLERGY COMPLICATING TREATMENT OPTIONS FOR POSTPROCEDURAL HYPOTHYROIDISM.
Hypothyroidism
Failure of iodine uptake in microscopic pulmonary metastases after recombinant human thyroid-stimulating hormone stimulation.
Hypothyroidism
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.
Infections
Purification and characterization of human alpha-galactosidase A expressed in insect cells using a baculovirus vector.
Infections
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.
Infections
Sensitivity to human serum of gammaretroviruses produced from pig endothelial cells transduced with glycosyltransferase genes.
Infections
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.
Influenza, Human
Mechanism for increased immunogenicity of vaccines that form in vivo immune complexes with the natural anti-Gal antibody.
Influenza, Human
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.
Intestinal Obstruction
Sodium hyaluronate-based bioresorbable membrane (Seprafilm) reduced early postoperative intestinal obstruction after lower abdominal surgery for colorectal cancer: the preliminary report.
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.
Ischemic Stroke
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.
Ischemic Stroke
Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.
Ischemic Stroke
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.
Kidney Diseases
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.
Kidney Failure, Chronic
Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice.
Kidney Failure, Chronic
Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease.
Kidney Failure, Chronic
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Kidney Failure, Chronic
Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease.
Kidney Failure, Chronic
Significance of screening for Fabry disease among male dialysis patients.
Kidney Failure, Chronic
Unexpectedly High Prevalence of Low Alpha-Galactosidase A Enzyme Activity in Patients with Focal Segmental Glomerulosclerosis.
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.
Leukemia
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]
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.
Lymphoma
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.
Lysosomal Storage Diseases
A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.
Lysosomal Storage Diseases
A diagnosis of Fabry gastrointestinal disease by chance: a case report.
Lysosomal Storage Diseases
Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease.
Lysosomal Storage Diseases
Bilateral femoral head and distal tibial osteonecrosis in a patient with Fabry disease.
Lysosomal Storage Diseases
Case report: is low ?-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?
Lysosomal Storage Diseases
Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer.
Lysosomal Storage Diseases
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa.
Lysosomal Storage Diseases
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Lysosomal Storage Diseases
Detection of alpha-galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography.
Lysosomal Storage Diseases
Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).
Lysosomal Storage Diseases
Elevated globotriaosylsphingosine is a hallmark of Fabry disease.
Lysosomal Storage Diseases
Enzyme replacement therapy for Fabry disease, an inherited nephropathy.
Lysosomal Storage Diseases
Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement.
Lysosomal Storage Diseases
Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease.
Lysosomal Storage Diseases
Expression of genes and their responses to enzyme replacement therapy in a Fabry disease mouse model.
Lysosomal Storage Diseases
Fabry disease in two brothers with proteinuria: A case report and Fabry disease review?.
Lysosomal Storage Diseases
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
Lysosomal Storage Diseases
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
Lysosomal Storage Diseases
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Lysosomal Storage Diseases
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
Lysosomal Storage Diseases
Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?
Lysosomal Storage Diseases
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Lysosomal Storage Diseases
Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.
Lysosomal Storage Diseases
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.
Lysosomal Storage Diseases
Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease.
Lysosomal Storage Diseases
Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report.
Lysosomal Storage Diseases
Identification of the glycosidase inhibitors swainsonine and calystegine B2 in Weir vine (Ipomoea sp. Q6 [aff. calobra]) and correlation with toxicity.
Lysosomal Storage Diseases
Later-Onset Fabry Disease: An Adult Variant Presenting With the Cramp-Fasciculation Syndrome.
Lysosomal Storage Diseases
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.
Lysosomal Storage Diseases
Magnetic Resonance Image Findings in 5 Young Patients With Fabry Disease.
Lysosomal Storage Diseases
Multidisciplinary approach to Fabry disease: from the eye of a neurologist.
Lysosomal Storage Diseases
Natural history of the cerebrovascular complications of Fabry disease.
Lysosomal Storage Diseases
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.
Lysosomal Storage Diseases
Prevalence of Fabry Disease in Young Patients with Cryptogenic Ischemic Stroke.
Lysosomal Storage Diseases
Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.
Lysosomal Storage Diseases
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Lysosomal Storage Diseases
The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy.
Lysosomal Storage Diseases
The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease.
Lysosomal Storage Diseases
The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease.
Lysosomal Storage Diseases
Treatment with agalsidase beta during pregnancy in Fabry disease.
Lysosomal Storage Diseases
Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.
Lysosomal Storage Diseases
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
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.
Measles
[Seroprevalence of antibodies against measles, rubella, mumps and varicella among school children in Madrid]
Melanoma
Increased immunogenicity of tumor vaccines complexed with anti-Gal: studies in knockout mice for alpha1,3galactosyltransferase.
Melanoma
Intratumoral injection of alpha-gal glycolipids induces a protective anti-tumor T cell response which overcomes Treg activity.
Melanoma
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.
Mucolipidoses
Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses.
Mucolipidoses
The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.
Mucopolysaccharidoses
[Therapy for systemic metabolic disorders based on the detection of basic corneal landmarks in childhood].
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.
Multiple Sclerosis
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.
Mumps
[Seroprevalence of antibodies against measles, rubella, mumps and varicella among school children in Madrid]
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.
Muscular Dystrophy, Duchenne
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.
Myocardial Infarction
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency.
Myocardial Infarction
Caveolin-associated accumulation of globotriaosylceramide in the vascular endothelium of alpha-galactosidase A null mice.
Myocardial Infarction
Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase.
Myocardial Infarction
Influence of isoproterenol-induced myocardial infarction on certain glycohydrolases and cathepsins in rats.
Myocardial Infarction
Plaque Rupture-Induced Myocardial Infarction and Mechanical Circulatory Support in Alpha-Gal Allergy.
Myocardial Infarction
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.
Neoplasm Micrometastasis
Intratumoral injection of alpha-gal glycolipids induces a protective anti-tumor T cell response which overcomes Treg activity.
Neoplasm Micrometastasis
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.
Neoplasms
Anti-Gal-mediated targeting of human B lymphoma cells to antigen-presenting cells: a potential method for immunotherapy using autologous tumor cells.
Neoplasms
Autologous tumor vaccines processed to express alpha-gal epitopes: a practical approach to immunotherapy in cancer.
Neoplasms
Cabazitaxel plus carboplatin for the treatment of men with metastatic castration-resistant prostate cancers: a randomised, open-label, phase 1-2 trial.
Neoplasms
Cell surface laminin-like substances and laminin-related carbohydrates of rat ascites hepatoma AH7974 and its variants with different lung-colonizing potential.
Neoplasms
Expression of alpha-gal epitopes on ovarian carcinoma membranes to be used as a novel autologous tumor vaccine.
Neoplasms
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.
Neoplasms
In vivo targeting of vaccinating tumor cells to antigen-presenting cells by a gene therapy method with adenovirus containing the alpha1,3galactosyltransferase gene.
Neoplasms
Increased immunogenicity of tumor vaccines complexed with anti-Gal: studies in knockout mice for alpha1,3galactosyltransferase.
Neoplasms
Increased immunogenicity of tumor-associated antigen, mucin 1, engineered to express alpha-gal epitopes: a novel approach to immunotherapy in pancreatic cancer.
Neoplasms
Intratumoral injection of alpha-gal glycolipids induces a protective anti-tumor T cell response which overcomes Treg activity.
Neoplasms
Intratumoral injection of alpha-gal glycolipids induces xenograft-like destruction and conversion of lesions into endogenous vaccines.
Neoplasms
Metabolic engineering of Agrobacterium sp. strain ATCC 31749 for production of an alpha-Gal epitope.
Neoplasms
Outcome after ablation in patients with low-risk thyroid cancer (ESTIMABL1): 5-year follow-up results of a randomised, phase 3, equivalence trial.
Neoplasms
Protective, anti-tumor monoclonal antibody recognizes a conformational epitope similar to melibiose at the surface of invasive murine melanoma cells.
Neoplasms
Serum levels of interleukin-2 and tumor necrosis factor-alpha correlate to tumor progression in gastric cancer.
Neoplasms
Structural similarities among malaria toxins insulin second messengers, and bacterial endotoxin.
Neoplasms
Synthesis of alpha-gal epitopes (Galalpha1-3Galbeta1-4GlcNAc-R) on human tumor cells by recombinant alpha1,3galactosyltransferase produced in Pichia pastoris.
Neoplasms
The alpha-gal epitope and the anti-Gal antibody in xenotransplantation and in cancer immunotherapy.
Neuralgia
A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.
Neuralgia
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Neuralgia
[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.
Neurologic Manifestations
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.
Neurologic Manifestations
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.
Occupational Diseases
[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.
Osteoarthritis
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.
Parkinson Disease
Genetic analysis of lysosomal alpha-galactosidase A gene in sporadic Parkinson's disease.
Parkinson 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.
Prostatic Neoplasms
Cabazitaxel plus carboplatin for the treatment of men with metastatic castration-resistant prostate cancers: a randomised, open-label, phase 1-2 trial.
Prostatic Neoplasms
Cross-linked hyaluronan gel reduces the acute rectal toxicity of radiotherapy for prostate cancer.
Proteinuria
Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?
Proteinuria
Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype-phenotype expression.
Proteinuria
Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.
Proteinuria
Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations--different outcome?
Proteinuria
Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications.
Proteinuria
Fabry's disease. Report of the case diagnosed on the basis of routine ultrastructural examination of the renal biopsy.
Proteinuria
Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.
Proteinuria
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
Proteinuria
Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).
Proteinuria
[Fabry disease in Spain: first analysis of the response to enzyme replacement therapy]
Proteinuria
[First Polish experience with enzyme replacement therapy in patients with Fabry disease]
Renal Insufficiency
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
Renal Insufficiency
Alpha-galactosidase A activity levels in Turkish male hemodialysis patients.
Renal Insufficiency
alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.
Renal Insufficiency
Echocardiographic ultrasonic tissue characterization in a case of Fabry's disease following renal transplantation.
Renal Insufficiency
Effect of acid-base changes on urinary hydrolases in Fabry's disease after renal transplantation.
Renal Insufficiency
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease.
Renal Insufficiency
Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications.
Renal Insufficiency
Failure to correct the metabolic defect by renal allotransplantion in Fabry's disease.
Renal Insufficiency
Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase.
Renal Insufficiency
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.
Renal Insufficiency
Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease.
Renal Insufficiency
[Combined heart and kidney transplantation in Fabry's disease: Long-term outcomes in two patients].
Renal Insufficiency, Chronic
Agalsidase alfa: a review of its use in the management of fabry disease.
Renal Insufficiency, Chronic
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
Renal Insufficiency, Chronic
Novel dosage forms and regimens for sevelamer-based phosphate binders.
Renal Insufficiency, Chronic
Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.
Renal Insufficiency, Chronic
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.
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.
Rubella
[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.
Skin Diseases
Summary of the OA biomarkers workshop 2010 - genetics and genomics: new targets in OA.
Small Fiber Neuropathy
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.
Small Fiber Neuropathy
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.
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.
Stroke
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency.
Stroke
Caveolin-associated accumulation of globotriaosylceramide in the vascular endothelium of alpha-galactosidase A null mice.
Stroke
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.
Stroke
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.
Stroke
Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease.
Stroke
Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease.
Stroke
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.
Stroke
Screening for Fabry Disease in Young Strokes in the Australian Stroke Clinical Registry (AuSCR).
Stroke
Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.
Stroke
Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry.
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.
Thrombosis
Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation.
Thrombosis
Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.
Thrombosis
Technology evaluation: transgenic antithrombin III (rhAT-III), Genzyme Transgenics.
Thrombosis
[Effect of alpha-galactosidase A deficiency on FV leiden fibrin deposition and thrombosis in mice]
Thyroid Neoplasms
Clinical experience with recombinant human thyroid-stimulating hormone (rhTSH): whole-body scanning with iodine-131.
Thyroid Neoplasms
Recombinant human thyroid-stimulating hormone (Thyrogen) in thyroid cancer follow up: experience at a single institution.
Thyroid Neoplasms
Recombinant human thyrotropin use resulting in ovarian hyperstimulation: an unusual side effect.
Thyroid Neoplasms
Serum vascular endothelial growth factor levels are elevated in metastatic differentiated thyroid cancer but not increased by short-term TSH stimulation.
Thyroid Neoplasms
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.
Tuberculosis
Vaccination with Alpha-Gal Protects Against Mycobacterial Infection in the Zebrafish Model of Tuberculosis.
Urticaria
Alpha-Gal Allergy as a Cause of Intestinal Symptoms in a Gastroenterology Community Practice.
Urticaria
Delayed Anaphylaxis to Mammalian Meat: A Fascinating Disease and Captivating Story.
Urticaria
Delayed anaphylaxis, angioedema, or urticaria after consumption of red meat in patients with IgE antibodies specific for galactose-alpha-1,3-galactose.
Urticaria
Delayed immediate-type hypersensitivity to red meat and innards: current insights into a novel disease entity.
Urticaria
Delayed urticaria or anaphylaxis after consumption of red meat with evidence of alpha-gal sensitisation.
Urticaria
Diagnosis of Life-Threatening Alpha-Gal Food Allergy Appears to Be Patient Driven.
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
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]
Whooping Cough
[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.