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Information on EC 3.2.1.117 - amygdalin beta-glucosidase
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EC Tree
3.2.1.117 amygdalin beta-glucosidaseIUBMB Comments
Highly specific; does not act on prunasin, linamarin, gentiobiose or cellobiose (cf. EC 3.2.1.21 beta-glucosidase).
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Word Map
- 3.2.1.117
- oligosaccharide
- glycogen
- lysosomal
- acarbose
- amylase
- castanospermine
- pompe
-
antidiabetic
-
n-linked
- mellitus
-
mannosidase
-
postprandial
- glycosidase
-
trimming
-
glucosylated
- maltase
- 1-deoxynojirimycin
- gaucher
- abts
- cellulase
- calnexin
- galactosidase
- cellobiose
-
hypoglycemic
- 1-deoxymannojirimycin
-
deglucosylation
- glucoamylase
- thiazolidinediones
- swainsonine
-
monoglucosylated
-
cuprac
- sulfonylurea
-
debranching
- miglitol
- glc3man9glcnac2
-
phosphomolybdenum
- rhgaa
-
sulfonium
-
polyhydroxylated
- glucocerebroside
- glycogenosis
-
sulphonylureas
-
fucosidase
-
iminosugars
- salacia
-
infantile-onset
- maltase-glucoamylase
-
anti-hyperglycemic
- diagnostics
- brewing
- medicine
The enzyme appears in viruses and cellular organisms
Synonyms
glucosidase, 
more
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SYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
AH I'
-
-
-
-
AH II'
-
-
-
-
amygdalase
-
-
-
-
amygdalin glucosidase
-
-
-
-
amygdalin hydrolase
amygdalin hydrolase isozyme I'
-
-
-
-
amygdalin hydrolase isozyme II'
-
-
-
-
amygdalinase
-
-
-
-
beta-glucosidase
glycoside hydrolase
amygdalin hydrolase
-
-
-
-
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REACTION
REACTION DIAGRAM
COMMENTARY
ORGANISM
UNIPROT
LITERATURE
(R)-amygdalin + H2O = (R)-prunasin + D-glucose
extracellular enzyme that shows amygdalin as well as prunasin hydrolase activity
-
(R)-amygdalin + H2O = (R)-prunasin + D-glucose
extracellular enzyme that shows amygdalin as well as prunasin hydrolase activity
-
(R)-amygdalin + H2O = (R)-prunasin + D-glucose
prunasin hydrolysis is much slower than amygdalin hydrolysis
-
(R)-amygdalin + H2O = (R)-prunasin + D-glucose
prunasin hydrolysis is much slower than amygdalin hydrolysis
-
(R)-amygdalin + H2O = (R)-prunasin + D-glucose
high similarities with glycoside hydrolase family 1 enzymes
(R)-amygdalin + H2O = (R)-prunasin + D-glucose
four isoforms found, AH I, AH I', AH II, AH II'
-
(R)-amygdalin + H2O = (R)-prunasin + D-glucose
-
-
-
-
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
hydrolysis of O-glycosyl bond
-
-
-
-
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SYSTEMATIC NAME
IUBMB Comments
amygdalin beta-D-glucohydrolase
Highly specific; does not act on prunasin, linamarin, gentiobiose or cellobiose (cf. EC 3.2.1.21 beta-glucosidase).
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CAS REGISTRY NUMBER
COMMENTARY
51683-43-3
-
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SUBSTRATE
PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
6-bromo-2-naphthyl-beta-D-glucopyranoside + H2O
6-bromo-2-naphthol + beta-D-glucopyranose
-
-
-
-
?
cardiospermin 5-sulfate + H2O
D-glucose + sulfuric acid mono-(3-cyano-3-hydroxy-2-methylenepropyl) ester
-
poor substrate
-
-
?
epivolkenin + H2O
D-glucose + 1,4-dihydroxycyclopent-2-enecabonitrile
-
poor substrate
-
-
?
gynocardin + H2O
D-glucose + 1,4,5-hydroxycyclopent-2-enecarbonitrile
-
-
-
-
?
linamarin + H2O
D-glucose + acetone cyanohydrin
-
poor substrate
-
-
?
passibiflorin + H2O
D-glucose + 1,4-dihydroxycyclopent-2-enecabonitrile
-
poor substrate
-
-
?
sambunigrin + H2O
D-glucose + mandelonitrile
-
very effective substrate
-
-
?
sour cherry glycoside + H2O
benzaldehyde + eugenol + trans-isoeugenol + cis-isoeugenol + geraniol + ?
tetraphyllin B + H2O
D-glucose + 1,4-dihydroxycyclopent-2-enecabonitrile
-
very effective substrate
-
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
amygdalin is decomposed by beta-glucosidase in the digestive fluid into glucose and prunasin, which is further hydrolyzed to mandelonitrile and then to benzaldehyde and hydrogen cyanide. Amygdalin, a toxic component, can cause fatal cyanide poisonings, chronic toxicity, and death
-
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
substrate and product determination in the in vitro system by mass spectrometry, method, overview
-
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
very broad specificity
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
the enzyme is involved in the metabolic pathway for the synthesis and catabolism of the cyanogenic glucosides prunasin and and amygdalin
-
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
-
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-prunasin + H2O
D-glucose + mandelonitrile
-
very effective substrate, EC 3.2.1.118 activity
-
?
sour cherry glycoside + H2O
benzaldehyde + eugenol + trans-isoeugenol + cis-isoeugenol + geraniol + ?
-
refermentation of a sour cherry juice supplemented beer
-
-
?
sour cherry glycoside + H2O
benzaldehyde + eugenol + trans-isoeugenol + cis-isoeugenol + geraniol + ?
-
refermentation of a sour cherry juice supplemented beer
-
-
?
sour cherry glycoside + H2O
benzaldehyde + linalool + eugenol + ?
-
-
-
-
?
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NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
amygdalin is decomposed by beta-glucosidase in the digestive fluid into glucose and prunasin, which is further hydrolyzed to mandelonitrile and then to benzaldehyde and hydrogen cyanide. Amygdalin, a toxic component, can cause fatal cyanide poisonings, chronic toxicity, and death
-
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
the enzyme is involved in the metabolic pathway for the synthesis and catabolism of the cyanogenic glucosides prunasin and and amygdalin
-
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
(R)-amygdalin + H2O
(R)-prunasin + D-glucose
-
first step of cyanogenesis from amygdalin
-
?
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METALS and IONS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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INHIBITOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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ACTIVATING COMPOUND
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acquired Immunodeficiency Syndrome
Computer-aided molecular design of novel glucosidase inhibitors for AIDS treatment.
amygdalin beta-glucosidase deficiency
Alpha glucosidases in white blood cells, with reference to the detection of acid alpha 1-4 glucosidase deficiency.
amygdalin beta-glucosidase deficiency
Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists.
amygdalin beta-glucosidase deficiency
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
amygdalin beta-glucosidase deficiency
Late familial pseudo-myopathic muscular glycogenosis with alpha 1,4 glucosidase deficiency. Morphological, histoenzymological and biochemical approach.
amygdalin beta-glucosidase deficiency
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
amygdalin beta-glucosidase deficiency
The brain in late-onset glycogenosis II: a structural and functional MRI study.
amygdalin beta-glucosidase deficiency
White blood cells and the diagnosis of alpha-glucosidase deficiency.
amygdalin beta-glucosidase deficiency
[Chronic respiratory failure in a case with juvenile-onset acid alpha-glucosidase deficiency; successful therapy with nasal intermittent positive pressure ventilation (NIPPV)]
amygdalin beta-glucosidase deficiency
[Ichthyosiform scaling in alpha-1,4-glucosidase deficiency]
Atherosclerosis
Influence of acarbose (a glucosidase inhibitor) on experimental atherosclerosis in the rabbit.
Azoospermia
Seminal plasma hexosaminidase in patients with normal and abnormal spermograms.
Bronchopneumonia
A severe form of non-classic Pompe's disease with normal creatinine kinase level.
Cardiovascular Diseases
Functional Foods and Nutraceuticals as Dietary Intervention in Chronic Diseases; Novel Perspectives for Health Promotion and Disease Prevention.
Colonic Neoplasms
Ataxin-10 is part of a cachexokine cocktail triggering cardiac metabolic dysfunction in cancer cachexia.
Connective Tissue Diseases
Excretion of glucose-containing oligosaccharides in urines of orthopedic patients.
COVID-19
Role of Drugs used for chronic disease management on Susceptibility and Severity of COVID-19: A Large Case-Control Study.
Cystic Fibrosis
Alterations in specific activity of lysosomal alpha-glucosidase in cystic fibrosis.
Dehydration
Postharvest ethylene treatment affects berry dehydration, polyphenol and anthocyanin content by increasing the activity of cell wall enzymes in Aleatico wine grape
Dementia
Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease.
Dementia
Glucocerebrosidase Deficiency in Drosophila Results in ?-Synuclein-Independent Protein Aggregation and Neurodegeneration.
Dementia
Glucocerebrosidase reduces the spread of protein aggregation in a Drosophila melanogaster model of neurodegeneration by regulating proteins trafficked by extracellular vesicles.
Dengue
Antiviral activities of sulfonium-ion glucosidase inhibitors and 5-thiomannosylamine disaccharide derivatives against dengue virus.
Diabetes Mellitus
A case of nephrogenic diabetes insipidus caused by obstructive uropathy due to prostate cancer.
Diabetes Mellitus
Antidiabetic potential of Asparagus racemosus Willd leaf extracts through inhibition of ?-amylase and ?-glucosidase.
Diabetes Mellitus
Antidiabetic potential of polyoxotungstates: in vitro and in vivo studies.
Diabetes Mellitus
Chickpea (Cicer arietinum L.) Lectin Exhibit Inhibition of ACE-I, ?-amylase and ?-glucosidase Activity.
Diabetes Mellitus
Food-grade mulberry powder enriched with 1-deoxynojirimycin suppresses the elevation of postprandial blood glucose in humans.
Diabetes Mellitus
Long-term treatment in diabetics with acarbose, a glucosidase inhibitor: efficacy, tolerability and effect on GI hormones.
Diabetes Mellitus
Reappraisal and perspectives of clinical drug-drug interaction potential of ?-glucosidase inhibitors such as acarbose, voglibose and miglitol in the treatment of type 2 diabetes mellitus.
Diabetes Mellitus
Sitagliptin but not alpha glucosidase inhibitor reduced the serum soluble CD163, a marker for activated macrophage, in individuals with type 2 diabetes mellitus.
Diabetes Mellitus
The effect of new alpha-glucosidase inhibitors (BAY m 1099 and BAY o 1248) on meal-stimulated increases in glucose and insulin levels in man.
Diabetes Mellitus
[Acarbose, a glucosidase inhibitor: a new therapeutic principle in diabetes mellitus]
Diabetes Mellitus
[Clinical experience with an alpha glucosidase inhibitor (acarbose) in the treatment of non-insulin-dependent diabetes. Multicenter study]
Diabetes Mellitus, Type 2
Alpha glucosidase inhibition in the treatment of non-insulin-dependent diabetes mellitus.
Diabetes Mellitus, Type 2
Antidiabetic potential of Asparagus racemosus Willd leaf extracts through inhibition of ?-amylase and ?-glucosidase.
Diabetes Mellitus, Type 2
Change of Oral to Topical Corticosteroid Therapy Exacerbated Glucose Tolerance in a Patient with Plaque Psoriasis.
Diabetes Mellitus, Type 2
Chemometrics Optimized Extraction Procedures, Phytosynergistic Blending and in vitro Screening of Natural Enzyme Inhibitors Amongst Leaves of Tulsi, Banyan and Jamun.
Diabetes Mellitus, Type 2
Comparison of Placebo Effect between Asian and Caucasian Type 2 Diabetic Patients: A Meta-Analysis.
Diabetes Mellitus, Type 2
Comparison of vildagliptin and acarbose monotherapy in patients with Type 2 diabetes: a 24-week, double-blind, randomized trial.
Diabetes Mellitus, Type 2
Comparisons of the efficacy of alpha glucosidase inhibitors on type 2 diabetes patients between Asian and Caucasian.
Diabetes Mellitus, Type 2
DPP-4 inhibitor and alpha-glucosidase inhibitor equally improve endothelial function in patients with type 2 diabetes: EDGE study.
Diabetes Mellitus, Type 2
Effects of the alpha glucosidase inhibitor acarbose on endothelial function after a mixed meal in newly diagnosed type 2 diabetes.
Diabetes Mellitus, Type 2
Kinetics of ?-glucosidase inhibition by different fractions of three species of Labiatae extracts: a new diabetes treatment model.
Diabetes Mellitus, Type 2
New glucosidase inhibitors from an ayurvedic herbal treatment for type 2 diabetes: structures and inhibition of human intestinal maltase-glucoamylase with compounds from Salacia reticulata.
Diabetes Mellitus, Type 2
Reappraisal and perspectives of clinical drug-drug interaction potential of ?-glucosidase inhibitors such as acarbose, voglibose and miglitol in the treatment of type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
Role of Drugs used for chronic disease management on Susceptibility and Severity of COVID-19: A Large Case-Control Study.
Diabetes Mellitus, Type 2
Sitagliptin but not alpha glucosidase inhibitor reduced the serum soluble CD163, a marker for activated macrophage, in individuals with type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
The treatment of type 2 diabetes mellitus in youth : which therapies?
Diabetes Mellitus, Type 2
[Effect of glucosidase inhibitor, Bay g 5421 (acarbose), on the blood glucose in obese diabetic patients ty pe 2 (NIDDM) (author's transl)]
Gaucher Disease
Beta-glucosidase activity in liver, spleen and brain in acute neuropathic Gaucher disease.
Gaucher Disease
Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones.
Gaucher Disease
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
Gaucher Disease
Gaucher disease in Syrian children: common mutations identification, and clinical futures.
Gaucher Disease
Gaucher disease type 1: Unexpected diagnosis in a 75-year old patient presenting with splenomegaly.
Gaucher Disease
Glucocerebrosidase Deficiency in Drosophila Results in ?-Synuclein-Independent Protein Aggregation and Neurodegeneration.
Gaucher Disease
Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes.
Gaucher Disease
Increased glucocerebrosidase expression and activity in preeclamptic placenta.
Gaucher Disease
Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice.
Gaucher Disease
Retroviral-mediated transfer of the human glucocerebrosidase gene into cultured Gaucher bone marrow.
Gaucher Disease
Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.
Gaucher Disease
[Gaucher's disease: results of enzymatic treatment with beta glucosidase acid]
Genetic Diseases, Inborn
Effects of lysosomal biotherapeutic recombinant protein expression on cell stress and protease and general host cell protein release in Chinese hamster ovary cells.
glucan 1,4-alpha-glucosidase deficiency
Juvenile acid maltase deficiency presenting as paravertebral pseudotumour.
glucan 1,4-alpha-glucosidase deficiency
Multiple muscles in the AMD quail can be "cross-corrected" of pathologic glycogen accumulation after intravenous injection of an [E1-, polymerase-] adenovirus vector encoding human acid-alpha-glucosidase.
Glucose Intolerance
DPP-4 inhibitor and alpha-glucosidase inhibitor equally improve endothelial function in patients with type 2 diabetes: EDGE study.
Glucose Intolerance
SGLT2 inhibition alleviated hyperglycemia, glucose intolerance, and dumping syndrome-like symptoms in a patient with glycogen storage disease type Ia: a case report.
Glycogen Storage Disease
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.
Glycogen Storage Disease
Auditory system involvement in late onset Pompe disease: A study of 20 Italian patients.
Glycogen Storage Disease
Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line.
Glycogen Storage Disease
Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium.
Glycogen Storage Disease
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
Glycogen Storage Disease
Hyaluronidase increases the biodistribution of acid alpha-1,4 glucosidase in the muscle of Pompe disease mice: an approach to enhance the efficacy of enzyme replacement therapy.
Glycogen Storage Disease
Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
Glycogen Storage Disease
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
Glycogen Storage Disease
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
Glycogen Storage Disease
Identification of the promoter region and gene expression for human acid alpha glucosidase.
Glycogen Storage Disease
Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.
Glycogen Storage Disease
Isolation and partial characterization of the structural gene for human acid alpha glucosidase.
Glycogen Storage Disease
Juvenile acid maltase deficiency presenting as paravertebral pseudotumour.
Glycogen Storage Disease
Late familial pseudo-myopathic muscular glycogenosis with alpha 1,4 glucosidase deficiency. Morphological, histoenzymological and biochemical approach.
Glycogen Storage Disease
Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis.
Glycogen Storage Disease
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
Glycogen Storage Disease
Production of a Functional Human Acid Maltase in Tobacco Seeds: Biochemical Analysis, Uptake by Human GSDII Cells, and In Vivo Studies in GAA Knockout Mice.
Glycogen Storage Disease
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
Glycogen Storage Disease
Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease.
Glycogen Storage Disease
The brain in late-onset glycogenosis II: a structural and functional MRI study.
Glycogen Storage Disease
The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.
Glycogen Storage Disease
[Clinical observation on human alpha glucosidase in treatment of five patients with glycogen storage disease ?].
Glycogen Storage Disease Type II
A randomized study of alglucosidase alfa in late-onset Pompe's disease.
Glycogen Storage Disease Type II
A severe form of non-classic Pompe's disease with normal creatinine kinase level.
Glycogen Storage Disease Type II
AAV Gene Therapy Utilizing Glycosylation-Independent Lysosomal Targeting Tagged GAA in the Hypoglossal Motor System of Pompe Mice.
Glycogen Storage Disease Type II
Absolute quantification of the total and antidrug antibody-bound concentrations of recombinant human ?-glucosidase in human plasma using protein G extraction and LC-MS/MS.
Glycogen Storage Disease Type II
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.
Glycogen Storage Disease Type II
Alpha Glucosidase Assay on Dried Blood Spot in the Early Diagnosis of Infantile Pompe Disease.
Glycogen Storage Disease Type II
An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.
Glycogen Storage Disease Type II
Apical Hypertrophic Cardiomyopathy in an Infant: First Presentation of Pompe's Disease.
Glycogen Storage Disease Type II
Auditory system involvement in late onset Pompe disease: A study of 20 Italian patients.
Glycogen Storage Disease Type II
Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.
Glycogen Storage Disease Type II
Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line.
Glycogen Storage Disease Type II
Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors.
Glycogen Storage Disease Type II
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Glycogen Storage Disease Type II
Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.
Glycogen Storage Disease Type II
Deficiency of acid alpha glucosidase in the urine of patients with Pompe's disease.
Glycogen Storage Disease Type II
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.
Glycogen Storage Disease Type II
Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome.
Glycogen Storage Disease Type II
Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48Â weeks follow-up.
Glycogen Storage Disease Type II
Effects of lysosomal biotherapeutic recombinant protein expression on cell stress and protease and general host cell protein release in Chinese hamster ovary cells.
Glycogen Storage Disease Type II
Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium.
Glycogen Storage Disease Type II
Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA.
Glycogen Storage Disease Type II
GENERALIZED GLYCOGENOSIS. REPORT OF A CASE WITH DEFICIENCY OF ALPHA GLUCOSIDASE.
Glycogen Storage Disease Type II
Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.
Glycogen Storage Disease Type II
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Glycogen Storage Disease Type II
Hyaluronidase increases the biodistribution of acid alpha-1,4 glucosidase in the muscle of Pompe disease mice: an approach to enhance the efficacy of enzyme replacement therapy.
Glycogen Storage Disease Type II
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
Glycogen Storage Disease Type II
Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
Glycogen Storage Disease Type II
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
Glycogen Storage Disease Type II
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
Glycogen Storage Disease Type II
Identification of the promoter region and gene expression for human acid alpha glucosidase.
Glycogen Storage Disease Type II
Immunomodulatory, liver depot gene therapy for Pompe disease.
Glycogen Storage Disease Type II
Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.
Glycogen Storage Disease Type II
Isolation and partial characterization of the structural gene for human acid alpha glucosidase.
Glycogen Storage Disease Type II
Juvenile acid maltase deficiency presenting as paravertebral pseudotumour.
Glycogen Storage Disease Type II
Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis.
Glycogen Storage Disease Type II
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
Glycogen Storage Disease Type II
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.
Glycogen Storage Disease Type II
Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.
Glycogen Storage Disease Type II
Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease.
Glycogen Storage Disease Type II
Mitochondrial Variants in Pompe Disease: A Comparison between Classic and Non-Classic Forms.
Glycogen Storage Disease Type II
Multiple muscles in the AMD quail can be "cross-corrected" of pathologic glycogen accumulation after intravenous injection of an [E1-, polymerase-] adenovirus vector encoding human acid-alpha-glucosidase.
Glycogen Storage Disease Type II
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
Glycogen Storage Disease Type II
Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice.
Glycogen Storage Disease Type II
Peripheral nerve and neuromuscular junction pathology in Pompe disease.
Glycogen Storage Disease Type II
Phosphatidylserine Is Not Just a Cleanup Crew but Also a Well-Meaning Teacher.
Glycogen Storage Disease Type II
Production of a Functional Human Acid Maltase in Tobacco Seeds: Biochemical Analysis, Uptake by Human GSDII Cells, and In Vivo Studies in GAA Knockout Mice.
Glycogen Storage Disease Type II
Production of Human Acid-Alpha Glucosidase With a Paucimannose Structure by Glycoengineered Arabidopsis Cell Culture.
Glycogen Storage Disease Type II
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
Glycogen Storage Disease Type II
Quality of life and its contributors among adults with late-onset Pompe disease in China.
Glycogen Storage Disease Type II
Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease.
Glycogen Storage Disease Type II
Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.
Glycogen Storage Disease Type II
Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease.
Glycogen Storage Disease Type II
Sustained Correction of Motoneuron Histopathology Following Intramuscular Delivery of AAV in Pompe Mice.
Glycogen Storage Disease Type II
Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease.
Glycogen Storage Disease Type II
Teaching tolerance: New approaches to