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Glycogen Storage Disease Type III

Known as: GDE DEFICIENCY, Glycogenosis 3s, LIMIT DEXTRINOSIS 
An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system… 
National Institutes of Health

Related topics

Related topics

25 relations
4-alpha-glucanotransferase activityAGL geneAutosomal recessive inheritanceCardiomyopathies

Broader (2)

GenesGlycogen Storage Disease

Narrower (3)

Glycogen Storage Disease IIIBGlycogen Storage Disease IIICGlycogen Storage Disease IIID

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Skeletal muscle metabolism is impaired during exercise in glycogen storage disease type III
Objective: Glycogen storage disease type IIIa (GSDIIIa) is classically regarded as a glycogenosis with fixed weakness, but we… 
2005
2005
Cardiomyopathy of glycogen storage disease type III
SummaryTo identify the severity of cardiac involvement in glycogen storage disease type III (GSDIII), and its relation to… 
Highly Cited
2004
Highly Cited
2004
Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase.
Highly Cited
2004
Highly Cited
2004
Mutations in the Gal83 Glycogen-Binding Domain Activate the Snf1/Gal83 Kinase Pathway by a Glycogen-Independent Mechanism
ABSTRACT The yeast Snf1 kinase and its mammalian ortholog, AMP-activated protein kinase (AMPK), regulate responses to metabolic… 
2002
2002
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III
AbstractGlycogen storage disease type III (GSD III) is a rare autosomal recessive inherited disorder caused by a deficiency of… 
Highly Cited
1996
Highly Cited
1996
Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.
Glycogen debranching enzyme (gene symbol, AGL) is a multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4… 
1989
1989
Cardiac involvement in glycogen storage disease type III
Twenty patients with enzymatically proven glycogen storage disease type III (GSD III) aged 3–30 years underwent cardiological… 
Highly Cited
1989
Highly Cited
1989
Interocular differences in contrast and spatial frequency: Effects on stereopsis and fusion
Highly Cited
1974
Highly Cited
1974
Coexistence of diabetes mellitus and celiac disease.
Highly Cited
1942
Highly Cited
1942
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