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Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

✍ Scribed by Yoriko Endo; Ekram Fateen; Yoshiko Aoyama; Asako Horinishi; Tetsu Ebara; Toshio Murase; Yoon S. Shin; Minoru Okubo


Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
273 KB
Volume
50
Category
Article
ISSN
1435-232X

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MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN
✍ YONG QU; JOSE E. ABDENUR; CHRISTINE M. ENG; ROBERT J. DESNICK πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 469 KB πŸ‘ 1 views

Glycogen storage disease type Ia (GSD la, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of ~-glucose-6-phosphatase (G6Pase). Since this enzyme is expressed primarily in hepatocytes, couples at risk for GSD type Ia relied on fetal liver biopsy for p