Article

Pompe disease: clinical perspectives

2016-12-01

Abstract excerpt

Abstract: Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage disease type II. There is a broad clinical presentation: the most severe form that presents in the first few months of life with cardiomyopathy and generalized muscle weakness that rap...

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Literature Corpus work: d17f0587-3f3a-5ab8-874f-d200ca7fa942
DOI: 10.2147/odrr.s69109

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