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Glycogen Storage Disease Type IIb

Known as: Vacuolar Cardiomyopathy and Myopathy, X-linked, ANTOPOL DISEASE, LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY 
An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene… 
National Institutes of Health

Related topics

Related topics

15 relations
Cardiomyopathy, DilatedDevelopmental delay (disorder)Generalized amyotrophyHypertrophic Cardiomyopathy

Broader (1)

Inborn Errors of Metabolism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
Review
2007
Review
2007
The heart in Anderson-Fabry disease and other lysosomal storage disorders
Lysosomal storage disorders (LSD) comprise a group of more than 40 diseases caused by a deficiency of lysosomal enzymes, membrane… 
Highly Cited
2006
Highly Cited
2006
The V0-ATPase mediates apical secretion of exosomes containing Hedgehog-related proteins in Caenorhabditis elegans
Polarized intracellular trafficking in epithelia is critical in development, immunity, and physiology to deliver morphogens… 
Review
2003
Review
2003
At the acidic edge: emerging functions for lysosomal membrane proteins.
Highly Cited
2003
Highly Cited
2003
Transgenic Mice Overexpressing Mutant PRKAG2 Define the Cause of Wolff-Parkinson-White Syndrome in Glycogen Storage Cardiomyopathy
Background—Mutations in the &ggr;2 subunit (PRKAG2) of AMP-activated protein kinase produce an unusual human cardiomyopathy… 
Review
1999
Review
1999
Vacuolar and plasma membrane proton-adenosinetriphosphatases.
The vacuolar H+-ATPase (V-ATPase) is one of the most fundamental enzymes in nature. It functions in almost every eukaryotic cell… 
Highly Cited
1999
Highly Cited
1999
Peroxisome degradation in Saccharomyces cerevisiae is dependent on machinery of macroautophagy and the Cvt pathway.
Organelle biogenesis and turnover are necessary to maintain biochemical processes that are appropriate to the needs of the… 
Review
1997
Review
1997
Moving GLUT4: The Biogenesis and Trafficking of GLUT4 Storage Vesicles
The GLUT4 system in muscle and fat cells plays an important role in whole-body glucose homeostasis. Insulin stimulates the… 
Highly Cited
1988
Highly Cited
1988
Organelle assembly in yeast: characterization of yeast mutants defective in vacuolar biogenesis and protein sorting
Yeast vacuole protein targeting (vpt) mutants exhibit defects in the sorting and processing of multiple vacuolar hydrolases. To… 
Highly Cited
1988
Highly Cited
1988
The cDNA sequence of the 69-kDa subunit of the carrot vacuolar H+-ATPase. Homology to the beta-chain of F0F1-ATPases.
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