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Glucose-6-phosphatase and pyrophosphatase activities of homogenates of livers from patients with glycogen storage disease

โœ Scribed by Barbara Illingworth; Carl F. Cori


Book ID
118848971
Publisher
Elsevier Science
Year
1965
Tongue
English
Weight
265 KB
Volume
19
Category
Article
ISSN
0006-291X

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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