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Disease on EC 3.2.1.33 - amylo-alpha-1,6-glucosidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
6-phosphofructokinase deficiency
Myopathies due to enzyme deficiencies.
amylo-alpha-1,6-glucosidase deficiency
Amylo-1,60glucosidase deficiency (glycogenosis type III) in the Faroe Islands.
Facial appearance in glycogen storage disease type III.
Glycogen Debrancher Enzyme Deficiency Myopathy.
Glycogen storage disease type III presenting with secondary diabetes and managed with insulin: a case report.
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III.
Myopathies due to enzyme deficiencies.
Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy.
Myopathy in debrancher enzyme deficiency.
Pathological characteristics of glycogen storage disease III in skeletal muscle.
Pregnancy associated with amylo-1,6-glucosidase deficiency (Forbe's disease). Case report.
[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults]
Cardiomyopathies
Facial appearance in glycogen storage disease type III.
carnitine o-palmitoyltransferase deficiency
Neonatal metabolic myopathies.
Cytochrome-c Oxidase Deficiency
Neonatal metabolic myopathies.
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.
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.
A simple assay for amylo-1,6-glucosidase to detect heterozygotes for glycogenosis type III in erythrocytes.
Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis.
ACTION OF AMYLO-1,6-GLUCOSIDASE ON LOW MOLECULAR WEIGHT SUBSTRATES AND THE ASSAY OF THIS ENZYME IN GLYCOGEN STORAGE DISEASE.
Amylo-1,6-glucosidase activity and glycogen content of the erythrocytes of normal subjects, patients with glycogen storage disease and heterozygotes.
Amylo-1,6-glucosidase activity in cultured cells: a deficiency in type III glycogenosis with prenatal studies.
AMYLO-1,6-GLUCOSIDASE ACTIVITY IN LEUCOCYTES FROM PATIENTS WITH GLYCOGEN STORAGE DISEASE.
Amylo-1,6-glucosidase in human fibroblasts: studies 3 glycogen storage disease.
Amylo-1,60glucosidase deficiency (glycogenosis type III) in the Faroe Islands.
Case report: rupture of a gastric varix in liver cirrhosis associated with glycogen storage disease type III.
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.
Debrancher enzyme activity in blood cells of families with type III glycogen storage disease. A method for diagnosis of heterozygotes.
Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease.
Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study.
Glycogen storage disease type III in the Irish population.
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.
History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation.
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III.
Liver transplantation in patients with type IIIa glycogen storage disease, cirrhosis and hepatocellular carcinoma.
Metabolic myopathies.
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
Neonatal metabolic myopathies.
Possible prenatal diagnosis of type III glycogenosis.
Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.
Studies in glycogen storage disease type 3: kinetics of amylo-1,6-glucosidase in human erythrocytes.
Studies on a patient with in vivo evidence of type I glycogenosis and normal enzyme activities in vitro.
The ischemic exercise test in normal adults and in patients with weakness and cramps.
Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.
[A case of glycogen storage myopathy with acute heart failure]
[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 caused by absence of amylo-1,6-glucosidase. Hepatomuscular and isolated hepatic forms.]
[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults]
[Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III]
[Nine cases of debrancher deficiency (glycogen storage disease type III) presenting muscle weakness--study on clinicobiochemical analysis]
[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.
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.
Case report: rupture of a gastric varix in liver cirrhosis associated with 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 in Egyptian children: a single centre clinico-laboratory study.
Glycogen storage disease type III in the Irish population.
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.
History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation.
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
Pathological characteristics of glycogen storage disease III in skeletal muscle.
Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.
Studies in glycogen storage disease type 3: kinetics of amylo-1,6-glucosidase in human erythrocytes.
[Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III]
[Nine cases of debrancher deficiency (glycogen storage disease type III) presenting muscle weakness--study on clinicobiochemical analysis]
Hepatomegaly
Facial appearance in glycogen storage disease type III.
[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 Hypotonia
Neonatal metabolic myopathies.
Muscle Weakness
Myopathies due to enzyme deficiencies.
[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.
Facial appearance in glycogen storage disease type III.
Glycogen Debrancher Enzyme Deficiency Myopathy.
Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy.
Myopathy in debrancher enzyme deficiency.
[Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults]
Myoglobinuria
Metabolic myopathies.
Neonatal metabolic myopathies.
Polyneuropathies
Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis.
Protein Deficiency
Neonatal metabolic myopathies.