Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI

Human molecular genetics, Volume 7, Issue 5, 1998, Pages 865-870.

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Keywords:
glycogen phosphorylase

Abstract:

Glycogen storage disease type VI (GSD6) defines a group of disorders that cause hepatomegaly and hypoglycemia with reduced liver phosphorylase activity. The course of these disorders is generally mild, but definitive diagnosis requires invasive procedures. We analyzed a Mennonite kindred with an autosomal recessive form of GSD6 to determi...More

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