Disease on EC 3.2.1.33 - amylo-alpha-1,6-glucosidase
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amylo-alpha-1,6-glucosidase deficiency
Amylo-1,60glucosidase deficiency (glycogenosis type III) in the Faroe Islands.
amylo-alpha-1,6-glucosidase deficiency
Facial appearance in glycogen storage disease type III.
amylo-alpha-1,6-glucosidase deficiency
Glycogen storage disease type III presenting with secondary diabetes and managed with insulin: a case report.
amylo-alpha-1,6-glucosidase deficiency
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
amylo-alpha-1,6-glucosidase deficiency
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III.
amylo-alpha-1,6-glucosidase deficiency
Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy.
amylo-alpha-1,6-glucosidase deficiency
Pathological characteristics of glycogen storage disease III in skeletal muscle.
amylo-alpha-1,6-glucosidase deficiency
Pregnancy associated with amylo-1,6-glucosidase deficiency (Forbe's disease). Case report.
amylo-alpha-1,6-glucosidase deficiency
[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults]
Genetic Diseases, Inborn
[The determination of amylo-1,6-glucosidase in biopsy specimens from human chorion]
glucan 1,4-alpha-glucosidase deficiency
A hypotonic infant with complete deficiencies of acid maltase and debrancher enzyme.
Glycogen Storage Disease
A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
Glycogen Storage Disease
A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.
Glycogen Storage Disease
A simple assay for amylo-1,6-glucosidase to detect heterozygotes for glycogenosis type III in erythrocytes.
Glycogen Storage Disease
Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis.
Glycogen Storage Disease
ACTION OF AMYLO-1,6-GLUCOSIDASE ON LOW MOLECULAR WEIGHT SUBSTRATES AND THE ASSAY OF THIS ENZYME IN GLYCOGEN STORAGE DISEASE.
Glycogen Storage Disease
Amylo-1,6-glucosidase activity and glycogen content of the erythrocytes of normal subjects, patients with glycogen storage disease and heterozygotes.
Glycogen Storage Disease
Amylo-1,6-glucosidase activity in cultured cells: a deficiency in type III glycogenosis with prenatal studies.
Glycogen Storage Disease
AMYLO-1,6-GLUCOSIDASE ACTIVITY IN LEUCOCYTES FROM PATIENTS WITH GLYCOGEN STORAGE DISEASE.
Glycogen Storage Disease
Amylo-1,6-glucosidase in human fibroblasts: studies 3 glycogen storage disease.
Glycogen Storage Disease
Amylo-1,60glucosidase deficiency (glycogenosis type III) in the Faroe Islands.
Glycogen Storage Disease
Case report: rupture of a gastric varix in liver cirrhosis associated with glycogen storage disease type III.
Glycogen Storage Disease
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
Glycogen Storage Disease
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.
Glycogen Storage Disease
Debrancher enzyme activity in blood cells of families with type III glycogen storage disease. A method for diagnosis of heterozygotes.
Glycogen Storage Disease
Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease.
Glycogen Storage Disease
Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study.
Glycogen Storage Disease
Glycogen storage disease type IIIa presenting as non-ketotic hypoglycemia: use of a newly approved commercially available mutation analysis to non-invasively confirm the diagnosis.
Glycogen Storage Disease
History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation.
Glycogen Storage Disease
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III.
Glycogen Storage Disease
Liver transplantation in patients with type IIIa glycogen storage disease, cirrhosis and hepatocellular carcinoma.
Glycogen Storage Disease
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
Glycogen Storage Disease
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
Glycogen Storage Disease
Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
Glycogen Storage Disease
Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.
Glycogen Storage Disease
Studies in glycogen storage disease type 3: kinetics of amylo-1,6-glucosidase in human erythrocytes.
Glycogen Storage Disease
Studies on a patient with in vivo evidence of type I glycogenosis and normal enzyme activities in vitro.
Glycogen Storage Disease
The ischemic exercise test in normal adults and in patients with weakness and cramps.
Glycogen Storage Disease
Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.
Glycogen Storage Disease
[Evaluation of a fluorimetric for determining the activity of amylo-1,6-glucosidase in leukocytes for confirming the diagnosis of glycogen storage disease type III].
Glycogen Storage Disease
[Glycogen storage disease caused by absence of amylo-1,6-glucosidase. Hepatomuscular and isolated hepatic forms.]
Glycogen Storage Disease
[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults]
Glycogen Storage Disease
[Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III]
Glycogen Storage Disease
[Nine cases of debrancher deficiency (glycogen storage disease type III) presenting muscle weakness--study on clinicobiochemical analysis]
Glycogen Storage Disease
[Serum lipoproteins in the generalized form of type III glycogenosis]
Glycogen Storage Disease Type II
A hypotonic infant with complete deficiencies of acid maltase and debrancher enzyme.
Glycogen Storage Disease Type III
A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
Glycogen Storage Disease Type III
A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.
Glycogen Storage Disease Type III
Case report: rupture of a gastric varix in liver cirrhosis associated with glycogen storage disease type III.
Glycogen Storage Disease Type III
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
Glycogen Storage Disease Type III
Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study.
Glycogen Storage Disease Type III
Glycogen storage disease type III in the Irish population.
Glycogen Storage Disease Type III
Glycogen storage disease type IIIa presenting as non-ketotic hypoglycemia: use of a newly approved commercially available mutation analysis to non-invasively confirm the diagnosis.
Glycogen Storage Disease Type III
History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation.
Glycogen Storage Disease Type III
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
Glycogen Storage Disease Type III
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
Glycogen Storage Disease Type III
Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
Glycogen Storage Disease Type III
Pathological characteristics of glycogen storage disease III in skeletal muscle.
Glycogen Storage Disease Type III
Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.
Glycogen Storage Disease Type III
Studies in glycogen storage disease type 3: kinetics of amylo-1,6-glucosidase in human erythrocytes.
Glycogen Storage Disease Type III
[Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III]
Glycogen Storage Disease Type III
[Nine cases of debrancher deficiency (glycogen storage disease type III) presenting muscle weakness--study on clinicobiochemical analysis]
Hepatomegaly
[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults]
Hypoglycemia
[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults]
Muscle Weakness
[Nine cases of debrancher deficiency (glycogen storage disease type III) presenting muscle weakness--study on clinicobiochemical analysis]
Muscular Diseases
Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers.
Muscular Diseases
Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy.
Muscular Diseases
[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults]
Polyneuropathies
Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis.
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