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Glycogen Storage Disease: Clinical, Biochemical, and Molecular Heterogeneity

โœ Scribed by Yoon S. Shin

Book ID
113915041
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
126 KB
Volume
13
Category
Article
ISSN
1071-9091

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โœ Parvari, Ruti; Lei, Ke-Jian; Bashan, Nava; Hershkovitz, Eli; Korman, Stanley H.; ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 33 KB ๐Ÿ‘ 2 views

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