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Glycogen Storage Disease Type IV

Known as: Gbe1 Deficiencies, Andersen's disease, Glycogenosis 4s 
An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha… Expand
National Institutes of Health

Papers overview

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Highly Cited
2015
Highly Cited
2015
Boisson et al. report a human homozygous mutation of HOIP, the gene encoding the catalytic component of the linear ubiquitination… Expand
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Highly Cited
2012
Highly Cited
2012
We report the clinical description and molecular dissection of a new fatal human inherited disorder characterized by chronic… Expand
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Highly Cited
2011
Highly Cited
2011
After the European Year for Combating Poverty and Social Exclusion, on the eve of the elaboration of policies designed to help… Expand
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Review
2006
Review
2006
  • Y. S. Shin
  • Seminars in pediatric neurology
  • 2006
  • Corpus ID: 40569665
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and brain and… Expand
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Highly Cited
2004
Highly Cited
2004
Glycogen storage disease type IV or Andersen disease is an autosomal recessive disorder due to deficiency of glycogen branching… Expand
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Highly Cited
1996
Highly Cited
1996
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branching enzyme… Expand
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1994
1994
The development of hepatocellular adenoma has been recognized in association with glycogen storage disease type I and, less often… Expand
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Highly Cited
1992
Highly Cited
1992
ABSTRACT: Glycogen storage disease type IV due to branching enzyme deficiency was found in an inbred family of Norwegian forest… Expand
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Highly Cited
1991
Highly Cited
1991
Type IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen’s disease1 or amylopectinosis) in… Expand
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1968
1968
Classification of the glycogen storage diseases according to the underlying enzyme defect has added considerably to our… Expand
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