✦ LIBER ✦

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia

✍ Scribed by C-S Ki; S-H Han; H-J Kim; S-G Lee; E-J Kim; J-W Kim; YH Choe; JK Seo; YJ Chang; JY Park

Book ID: 110887902
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 75 KB
Volume: 65
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2004.00260.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Glucose-6-phosphatase gene mutations in

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

✍ M. Terzioglu; S. Emre; H. Özen; İ.N. Saltık; N. Koçak; G. Ciliv; A. Yüce; F. Gür 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 38 KB

Mutation spectrum of glycogen storage di

Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

✍ E. Barkaoui; W. Cherif; N. Tebib; C. Charfeddine; F. Ben Rhouma; H. Azzouz; A. B 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 149 KB

A novel mutation in the glucose-6-phosph

A novel mutation in the glucose-6-phosphatase gene in Korean twins with glycogen storage disease type Ia

✍ M. Goto; T. Taki; H. Sugie; Y. Miki; H. Kato; Y. Hayashi 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 42 KB

Glucose-6-phosphatase gene mutations in

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

✍ S.-C. Chiang; Y.-M. Lee; M.-H. Chang; T.-R. Wang; T.-M. Ko; W.-L. Hwu 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 49 KB

Mutations in the glucose-6-phosphatase g

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia

✍ M. Stroppiano; S. Regis; M. DiRocco; F. Caroli; P. Gandullia; R. Gatti 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 64 KB

Heterogeneous mutations in the glucose-6

Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia

✍ 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