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Acid alpha-glucosidase deficiency (Pompe disease)

✍ Scribed by Tokiko Fukuda; Ashley Roberts; Paul H. Plotz; Nina Raben

Book ID: 107543536
Publisher: Springer
Year: 2007
Tongue: English
Weight: 161 KB
Volume: 7
Category: Article
ISSN: 1528-4042
DOI: 10.1007/s11910-007-0024-4

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## Abstract Alpha‐glucosidase deficiency is a rare cause of muscle disease in adults. The diagnosis relies on recognition of the salient clinical features and determination of significantly reduced alpha‐glucosidase (GAA) activity. Lymphocytes are the usual tissue for diagnostic enzymology; discrep