Article
Glycogenosis type II (acid maltase deficiency).
Muscle & nerve. Supplement - 1 Jan 1995
Reuser A J, Kroos M A, Hermans M M, Bijvoet A G, Verbeet M P, Van Diggelen O P, Kleijer W J, Van der Ploeg A T
Abstract excerpt
Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal alpha-glucosidase resulting in lysosomal accumulation of glycogen. The disease is inherited as an autosomal recessive trait and is clinically heterogeneous. Early and late onset phenotypes are distinguished. Insight in the molecular nature of the lysosomal...
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