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Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia

✍ Scribed by M. Terzioglu; S. Emre; H. Özen; İ.N. Saltık; N. Koçak; G. Ciliv; A. Yüce; F. Gürakan


Book ID
110325945
Publisher
Springer
Year
2001
Tongue
English
Weight
38 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 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 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