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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1963-2017
0102019632017

Papers overview

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Highly Cited
2009
Highly Cited
2009
CONTEXT Mutations in X-linked lysosome-associated membrane protein gene (LAMP2; Danon disease) produce a cardiomyopathy in young… (More)
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2006
2006
Two brothers with the childhood variant of type II glycogenosis (GSD-IIb) treated with nutrition and exercise therapy (NET) from… (More)
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Highly Cited
2006
Highly Cited
2006
The Petunia hybrida genes ANTHOCYANIN1 (AN1) and AN2 encode transcription factors with a basic-helix-loop-helix (BHLH) and a MYB… (More)
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2004
2004
Acidification of intracellular compartments by the vacuolar-type H(+)-ATPases (VHA) is known to energize ion and metabolite… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Mutations in the gamma2 subunit (PRKAG2) of AMP-activated protein kinase produce an unusual human cardiomyopathy… (More)
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Highly Cited
2000
Highly Cited
2000
“Lysosomal glycogen storage disease with normal acid maltase”, which was originally described by Danon et al., is characterized… (More)
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Highly Cited
1999
Highly Cited
1999
CONTEXT Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited… (More)
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Highly Cited
1998
Highly Cited
1998
In a male infant who had cardiomyopathy, generalized muscle weakness and increased serum creatine kinase levels, his muscle… (More)
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Highly Cited
1996
Highly Cited
1996
In the yeast Saccharomyces cerevisiae, vacuolar proteins such as carboxypeptidase Y transit from the Golgi to the lysosome-like… (More)
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Highly Cited
1989
Highly Cited
1989
Active transport across the vacuolar components of the eukaryotic endomembrane system is energized by a specific vacuolar H… (More)
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