Glycogen storage disease type 1a (von Gierke disease, GSD 1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity which catalyzes the final common step of glycogenolysis and gluconeogenesis. The recent cloning of the G6Pase cDNA and characterization of the human G6Pase
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease
โ Scribed by Martiniuk, Frank; Chen, Agnes; Mack, Adra; Arvanitopoulos, Eleni; Chen, Ying; Rom, William N.; Codd, William J.; Hanna, Bruce; Alcabes, Phil; Raben, Nina; Plotz, Paul
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 16 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980827)79:1<69::aid-ajmg16>3.0.co;2-k
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