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MLP010 Pompe disease: early signs of benefit in a child with late-onset form following treatment with enzyme replacement therapy (ERT)

✍ Scribed by D. Lianou; D. Syrengelas; P. Poulopoulos; K. Kotsonis; A. Klimentopoulou; I. Mavridou; H. Michelakakis; K. Kassiou


Book ID
114359564
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
47 KB
Volume
11
Category
Article
ISSN
1090-3798

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## Abstract Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α‐glucosidase (GAA) enzyme. Herein we report the first diagnosed Finnish patient with a phenotype compatible with the late‐onset form of Pompe disease. Molecular genetic analys