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New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy

✍ Scribed by Corrado Angelini; Claudio Semplicini; Sabrina Ravaglia; Maurizio Moggio; Giacomo P. Comi; Olimpia Musumeci; Elena Pegoraro; Paola Tonin; Massimiliano Filosto; Serenella Servidei; Lucia Morandi; Grazia Crescimanno; Giovanni Marrosu; Gabriele Siciliano; Tiziana Mongini; ANTONIO Toscano; the Italian Group on GSDII


Book ID
112147985
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
781 KB
Volume
45
Category
Article
ISSN
0148-639X

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A novel mutation of the GAA gene in a Fi
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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