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
β¦ LIBER β¦
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type
β Scribed by Yoriko Endo; Asako Horinishi; Matthias Vorgerd; Yoshiko Aoyama; Tetsu Ebara; Toshio Murase; Masato Odawara; Teodor Podskarbi; Yoon S. Shin; Minoru Okubo
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 154 KB
- Volume
- 51
- Category
- Article
- ISSN
- 1435-232X
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