✦ LIBER ✦

Genetic analysis of the glucose-6-phosphatase mutation of type la glycogen storage disease in a Chinese family

✍ Scribed by Wen-Jane Lee; Hsien-Ming Lee; Ching-Shiang Chi; San-Ging Shu; Lih-Yaun Lin; Wen-Han Lin

Book ID: 115091834
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 689 KB
Volume: 50
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1996.tb02627.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

A novel type heterozygous mutation in th

A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia

✍ Jie Zhu; Yan Xing; Xuenong Xing; An Ren; Shandong Ye; Guoping He 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 479 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

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

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

Mutations in the glucose-6-phosphatase-α

Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease

✍ Janice Y. Chou; Brian C. Mansfield 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB

Communicated by William S