Article
Muscle glycogenosis.
Journal of inherited metabolic disease - 1 Jan 1990
Moses S W
Abstract excerpt
This review describes clinical, biochemical and genetic features of the four inborn errors affecting muscle glycogen breakdown, namely deficiencies of phosphorylase, phosphorylase kinase, amylo-1,6-glucosidase and acid alpha-glucosidase. They are characterized by a wide spectrum of clinical manifestation, affecting age of onset, clinical features, progress of disease and tissue involvement. Biochemically,...
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