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The long-term outcome of patients with glycogen storage disease type Ia

✍ Scribed by G. P. A. Smit

Publisher: Springer
Year: 1993
Tongue: English
Weight: 345 KB
Volume: 152
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf02072089

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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