New insights into therapeutic options fo
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Emmanuel Richard; Gaëlle Douillard-Guilloux; Catherine Caillaud
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Article
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2011
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John Wiley and Sons
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English
⚖ 195 KB
## Abstract Glycogen storage disease type II or Pompe disease (GSD II, MIM 232300) is a rare inherited metabolic myopathy caused by a deficiency of lysosomal acid α‐glucosidase or acid maltase (GAA; EC 3.2.1.20), resulting in a massive lysosomal glycogen accumulation in cardiac and skeletal muscles