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… (More)

Topic mentions per year

Topic mentions per year

1944-2017
05010019442016

Papers overview

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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
2002
Highly Cited
2002
Mutations in PRKAG2, the gene for the gamma 2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and… (More)
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Highly Cited
2002
Highly Cited
2002
Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease and therefore, no metabolic centre has experience… (More)
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Highly Cited
2002
Highly Cited
2002
Treatment of many inherited disorders of hepatic metabolism is still challenging. Hepatocyte transplantation was done in a 47… (More)
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Highly Cited
2001
Highly Cited
2001
Purpose: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid… (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
1996
Highly Cited
1996
Glycogen storage disease type 1a (GSD–1a) is caused by a deficiency in microsomal glucose–6–phosphatase (G6Pase), the key enzyme… (More)
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Highly Cited
1993
Highly Cited
1993
Glycogen storage disease (GSD) type 1a is caused by the deficiency of D-glucose-6-phosphatase (G6Pase), the key enzyme in glucose… (More)
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1990
1990
Glycogen storage diseases are associated with more than 15 different enzyme deficiencies and can be clinically divided mainly… (More)
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Highly Cited
1969
Highly Cited
1969
 
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