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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… Expand
National Institutes of Health

Papers overview

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Review
2012
Review
2012
Glycogen is a branched polymer of glucose that acts as a store of energy in times of nutritional sufficiency for utilization in… Expand
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Highly Cited
2004
Highly Cited
2004
5′-AMP-activated protein kinase (AMPK) is a metabolic stress sensor present in all eukaryotes. A dominant missense mutation… Expand
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Highly Cited
2003
Highly Cited
2003
Abstract AMP-activated protein kinase (AMPK) is a multisubstrate enzyme activated by increases in AMP during metabolic stress… Expand
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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… Expand
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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… Expand
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Review
2002
Review
2002
Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders with an incidence of 1 in 100,000. The two… Expand
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Highly Cited
2002
Highly Cited
2002
Abstract. Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease and therefore, no metabolic centre has… Expand
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Highly Cited
1995
Highly Cited
1995
I. INTRODUCTION II. PERSPECTIVES III. GENERAL THEMES IV. CANCER V. CHROMOSOMES VI. DIAGNOSTIC APPROACHES VII. CARBOHYDRATES VIII… Expand
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Highly Cited
1991
Highly Cited
1991
 
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Highly Cited
1969
Highly Cited
1969
The glycogen storage diseases are disorders of glycogen metabolism in which an excessive amountof glycogen accumulates in several… Expand
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