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Molecular diagnosis of type 1c glycogen storage disease

✍ Scribed by A. R. Janecke; Nils U. Bosshard; Ertan Mayatepek; Andreas Schulze; Richard Gitzelmann; Ann Burchell; Claus R. Bartram; Bart Janssen

Publisher
Springer
Year
1999
Tongue
English
Weight
72 KB
Volume
104
Category
Article
ISSN
0340-6717

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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

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Microsomal glucose-6-phosphatase catalyses the last step in liver glucose production. Glucose-6-phosphatase deficiency, now termed type 1 glycogen storage disease, was first described almost 40 years ago but until recently very little was known about the molecular basis of the various type 1 glycoge