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Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib

โœ Scribed by Wang, David Q.; Carreras, Caroline T.; Fiske, Laurie M.; Austin, Stephanie; Boree, Danielle; Kishnani, Priya S.; Weinstein, David A.

Book ID
121305692
Publisher
Nature Publishing Group
Year
2012
Tongue
English
Weight
226 KB
Volume
14
Category
Article
ISSN
1098-3600

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๐Ÿ“œ SIMILAR VOLUMES

MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN
MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia
โœ YONG QU; JOSE E. ABDENUR; CHRISTINE M. ENG; ROBERT J. DESNICK ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 469 KB ๐Ÿ‘ 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