Genetic defects in patients with glycogenosis type II (acid maltase deficiency).

doi:10.1002/mus.880181415

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Article

Genetic defects in patients with glycogenosis type II (acid maltase deficiency).

Muscle & nerve. Supplement - 1 Jan 1995

Raben N, Nichols R C, Boerkoel C, Plotz P

Abstract excerpt

Inherited deficiency of acid alpha-glucosidase (acid maltase, GAA) leads to glycogen storage disease type II. Clinical manifestations and prognosis of the disease depend on the age of onset and tissue involvement. GAA deficiency is extremely heterogeneous, ranging from a rapidly progressive fatal...

Topics

Glucan 1,4-alpha-Glucosidase
Glycogen Storage Disease Type II
Humans
Mutation
RNA, Messenger
alpha-Glucosidases

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