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Glycogen Storage Disease

Known as: Storage Diseases, Glycogen, Glycogenoses, Glycogen Storage Disease [Disease/Finding] 
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent… 
National Institutes of Health

Related topics

Related topics

27 relations

Broader (3)

Enzyme DeficiencyNeuromuscular Diseasesdisorder of carbohydrate metabolism

Narrower (17)

Glucose-6-phosphate transport defectGlycogen Storage Disease IXBGlycogen Storage Disease IXCGlycogen Storage Disease Type I
In BloodInborn Errors of MetabolismMicrobiologicalchemically induced

Papers overview

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Highly Cited
2010
Highly Cited
2010
Genetic basis of hypertrophic cardiomyopathy
The understanding of hypertrophic cardiomyopathy (HCM) has matured from its cornerstone as a disease of the sarcomere to a… 
Review
2009
Review
2009
GLUT2 mutations, translocation, and receptor function in diet sugar managing.
Cloned 20 years ago, GLUT2 is a facilitative glucose transporter in the liver, pancreas, intestine, kidney, and brain. It ensures… 
Highly Cited
2004
Highly Cited
2004
The 5′-AMP-activated Protein Kinase γ3 Isoform Has a Key Role in Carbohydrate and Lipid Metabolism in Glycolytic Skeletal Muscle*
5′-AMP-activated protein kinase (AMPK) is a metabolic stress sensor present in all eukaryotes. A dominant missense mutation… 
Review
2003
Review
2003
AMPK as a metabolic switch in rat muscle, liver and adipose tissue after exercise.
UNLABELLED An increasing body of evidence has revealed that activation of adenosine monophosphate (AMP)-activated protein kinase… 
Review
2002
Review
2002
Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I)
Abstract. Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that… 
Highly Cited
2002
Highly Cited
2002
Hepatocyte transplantation as a treatment for glycogen storage disease type 1a
Highly Cited
1999
Highly Cited
1999
Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases
Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases 
Review
1999
Review
1999
Corpora-amylacea and the family of polyglucosan diseases
Highly Cited
1987
Highly Cited
1987
Eccentric exercise-induced muscle damage impairs muscle glycogen repletion.
Five healthy untrained young male subjects were studied before, immediately after, and 10 days after a 45-min bout of eccentric… 
Review
1980
Review
1980
Hepatocellular glycogenosis and hepatocarcinogenesis.
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