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M.P.5.01 Two years follow-up of enzyme therapy in five children with Pompe disease

✍ Scribed by C. van Capelle; N. van der Beek; M. Hagemans; W. Arts; J. Jaeken; P. Lee; A. Reuser; A. van der Ploeg

Book ID: 116793266
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 47 KB
Volume: 17
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2007.06.418

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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