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Pregnancies in glycogen storage disease type Ia

✍ Scribed by Daniëlle H.J. Martens; Jan Peter Rake; Martin Schwarz; Kurt Ullrich; David A. Weinstein; Martin Merkel; Pieter J.J. Sauer; G. Peter A. Smit

Book ID
113433479
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
270 KB
Volume
198
Category
Article
ISSN
1097-6868

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MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN
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✍ YONG QU; JOSE E. ABDENUR; CHRISTINE M. ENG; ROBERT J. DESNICK 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 469 KB 👁 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