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Glycogen storage disease: Biochemical and clinical data in sixteen cases

โœ Scribed by S. Van Creveld; F. Huijing

Book ID
115675402
Publisher
Elsevier Science
Year
1965
Tongue
English
Weight
555 KB
Volume
38
Category
Article
ISSN
1555-7162

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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