𝔖 Bobbio Scriptorium
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Insights into the Pathophysiology of Pompe Disease

✍ Scribed by Beth Thurberg

Book ID
117321810
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
53 KB
Volume
30
Category
Article
ISSN
0149-2918

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πŸ“œ SIMILAR VOLUMES

New insights into therapeutic options fo
New insights into therapeutic options for Pompe disease
✍ Emmanuel Richard; GaΓ«lle Douillard-Guilloux; Catherine Caillaud πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 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

New insights into therapeutic options fo
New insights into therapeutic options for Pompe disease
✍ Emmanuel Richard; GaΓ«lle Douillard-Guilloux; Catherine Caillaud πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 130 KB

## Abstract Different cellular steps of acid maltase synthesis and subsequent glycogen degradation, by Emmanuel Richard, GaΓ«lle Douillard–Guilloux, and Catherine Caillaud, pp. 979–986.