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Acute management of glycogen storage disease type Ia

✍ Scribed by Wightman, John M.; Gordon, Stacy


Book ID
122684523
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
558 KB
Volume
11
Category
Article
ISSN
0736-4679

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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