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Glucose-6-phosphatase activity in liver and blood platelets of two patients with glycogen storage disease type I

✍ Scribed by Oka Yogo; Mitsuyama Takashi; Nagai Bunsaku; Arashima Shinichiro; Ohkubo Iwao; Matsuda Ichiro

Book ID: 115822134
Publisher: Elsevier Science
Year: 1978
Tongue: English
Weight: 582 KB
Volume: 87
Category: Article
ISSN: 0009-8981
DOI: 10.1016/0009-8981(78)90174-2

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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