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Molecular aspects of glycogen storage disease type Ia in Turkish patients: A novel mutation in the glucose-6-phosphatase gene

✍ Scribed by G. Hüner; T. Podskarbi; M. Schütz; T. Baykal; G. Şarbat; Y. S. Shin; M. Demirkol


Book ID
110222905
Publisher
Springer
Year
1998
Tongue
English
Weight
77 KB
Volume
21
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