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P4.50 Results of prolonged follow-up of late-onset Pompe disease treated with alglucosidase alfa (Myozyme)

✍ Scribed by B. Eymard; C. Payan; K. Laloui; J.Y. Hogrel; C. Wary; R. Carlier; N. Pellegrini; A.L. Bedat-Millet; I. Durieu; A. Furby; I. Pénisson-Besnier; J. Praline; D. Orlikowski; N. Guffon-Fouilhoux; A. Levy; P. Laforêt

Book ID: 116794675
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 49 KB
Volume: 20
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2010.07.246

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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