Skip to search formSkip to main contentSkip to account menu

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.
2016
2016
In Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA.
Glycogen storage disease type Ia (GSD Ia) is caused by glucose-6-phosphatase (G6Pase) deficiency in association with severe, life… 
2013
2013
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.
2010
2010
Rapid detection of glycogen storage disease type Ia by DNA microarray
Abstract Background: Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder, and diagnosis depends on… 
2010
2010
Glycogen storage disease type Ia (GSD Ia) during pregnancy: Report of a case complicated by fetal growth restriction and preeclampsia
Glycogen storage disease type Ia (GSD Ia) leads to disturbed glycogenolysis and gluconeogenesis due to a deficiency in the enzyme… 
2009
2009
Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia
SummaryGlycogen storage disease type Ia (GSD Ia) is characterized by severe hypercholesterolaemia and hypertriglyceridaemia… 
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… 
Highly Cited
2001
Highly Cited
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… 
2001
2001
Hepatic adenomas treated with percutaneous ethanol injection in a patient with glycogen storage disease type Ia
Abstract: We report a 20-year-old man with glycogen storage disease type Ia (GSD Ia) who presented multiple hepatocellular… 
2000
2000
Identification of mutations in the glucose‐6‐phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5
Mutations in the glucose‐6‐phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSD Ia). A study of… 
2000
2000
High biotinidase activity in type Ia glycogen storage disease
TO THE EDITOR: Glycogen storage disease type Ia (GSD Ia) is caused by the deficient activity of glucose-6-phosphatase (G6Pase… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)