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Glycogen storage disease type I: diagnosis and phenotype/genotype correlation

โœ Scribed by Dietrich Matern; Hans Seydewitz; Deeksha Bali; Christine Lang; Yuan-Tsong Chen


Publisher
Springer
Year
2002
Tongue
English
Weight
109 KB
Volume
161
Category
Article
ISSN
0340-6997

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MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN
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