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Glucose-6-phosphatase and type 1 glycogen storage disease: Some critical considerations

โœ Scribed by W. J. Arion; W. K. Canfield


Publisher
Springer
Year
1993
Tongue
English
Weight
836 KB
Volume
152
Category
Article
ISSN
0340-6997

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Heterogeneous mutations in the glucose-6
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Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder of glycogen metabolism caused by glucose-6-phosphatase (G6Pase) deficiency. It is characterized by short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. Various mutations have been reported in the G