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Glycogen storage disease type Ia

Known as: Hepatorenal form of glycogen storage disease, Hepatorenal glycogenosis 
 
National Institutes of Health

Related topics

Related topics

2 relations
G6PC gene

Broader (1)

Glycogen Storage Disease Type I

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
An adult male patient with multiple adenomas and a hepatocellular carcinoma: mild glycogen storage disease type Ia.
The development of hepatocellular adenomas and - more rarely - carcinoma in the liver of patients with Glycogen Storage Disease… Expand
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2007
2007
Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia
SummaryIntroductionDespite their unfavourable cardiovascular risk profile, patients with glycogen storage disease type Ia (GSD Ia… Expand
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2007
2007
Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines.
Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disorder due to hepatic glucose-6-phosphatase deficiency. Although… Expand
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Highly Cited
2005
Highly Cited
2005
Hepatocellular carcinoma in glycogen storage disease type Ia: A case series
SummaryWe present a series of 8 patients (6 males, 2 females) with hepatocellular carcinoma (HCC) and glycogen storage disease… Expand
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2004
2004
Simultaneous liver-kidney transplantation for glycogen storage disease type IA (von Gierke's disease).
INTRODUCTION Glycogen storage disease type Ia (GSDIa) is due to the deficiency of glucose-6-phosphatase activity in the liver… Expand
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2004
2004
Successful pregnancy after combined renal–hepatic transplantation in glycogen storage disease type Ia
Summary: Reports of liver and kidney transplantation and of pregnancy in glycogen storage disease type Ia (GSD Ia) (McKusick… Expand
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2004
2004
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
Glycogen storage disease type Ia (GSDIa) is a severe autosomal recessive disorder caused by deficiency of the enzyme D-glucose-6… Expand
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2002
2002
Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors
Therapy in glycogen storage disease type Ia (GSD Ia), an inherited disorder of carbohydrate metabolism, relies on nutritional… Expand
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2001
2001
Canine Model and Genomic Structural Organization of Glycogen Storage Disease Type Ia (GSD Ia)
A canine model of glycogen storage disease Ia (GSD Ia), similar clinically, biochemically, and pathologically to the human… Expand
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2001
2001
Glycogen storage disease type Ia: molecular study in Brazilian patients
AbstractMutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSDIa). This… Expand
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