New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy
β 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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π SIMILAR VOLUMES
## Abstract Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid Ξ±βglucosidase (GAA) enzyme. Herein we report the first diagnosed Finnish patient with a phenotype compatible with the lateβonset form of Pompe disease. Molecular genetic analys