## 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
New insights into therapeutic options for Pompe disease
✍ Scribed by Emmanuel Richard; Gaëlle Douillard-Guilloux; Catherine Caillaud
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 130 KB
- Volume
- 63
- Category
- Article
- ISSN
- 1521-6543
- DOI
- 10.1002/iub.593
No coin nor oath required. For personal study only.
✦ Synopsis
Abstract
Different cellular steps of acid maltase synthesis and subsequent glycogen degradation, by Emmanuel Richard, Gaëlle Douillard–Guilloux, and Catherine Caillaud, pp. 979–986.
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