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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.
2013
2013
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.
2012
2012
Acoustically accessible window determination for ultrasound mediated treatment of glycogen storage disease type Ia patients
Glycogen storage disease type Ia (GSDIa) is caused by an inherited single-gene defect resulting in an impaired glycogen to… 
2011
2011
Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.
2011
2011
Acoustic accessibility investigation for ultrasound mediated treatment of glycogen storage disease type Ia patients.
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… 
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… 
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… 
1998
1998
Heteroduplex Analysis: A Useful Screening Method for Glycogen Storage Disease Type la
Glycogen storage disease type Ia (GSDIa), also known as von Gierke disease, is the most common and severe disease of glycogenoses… 
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