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Psychological Follow-Up of Late-Onset Pompe Patients and Parents' Expectations during 4 Years of Enzyme Replacement Therapy

✍ Scribed by Fidjy Rodrigues; Catarina Vaz; Fátima Martins; Luísa Diogo; Paula Garcia


Book ID
113544415
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
70 KB
Volume
33
Category
Article
ISSN
0149-2918

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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