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SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia

✍ Scribed by C. Meaney; T. Cranston; P. Lee; S. Genet


Book ID
110292304
Publisher
Springer
Year
2001
Tongue
English
Weight
31 KB
Volume
24
Category
Article
ISSN
0141-8955

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Heterogeneous mutations in the glucose-6
✍ Takahashi, Kazutoshi; Akanuma, Jun; Matsubara, Yoichi; Fujii, Kunihiro; Kure, Sh πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 35 KB πŸ‘ 2 views

Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder of glycogen metabolism caused by glucose-6-phosphatase (G6Pase) deficiency. It is characterized by short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. Various mutations have been reported in the G