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75. Clinical signs and symptoms of Pompe disease in 120 infantile-onset and 373 late-onset patients: A report from the Pompe Registry

✍ Scribed by Priya Kishnani; Barry Byrne; Laura Case; Timothy Miller


Book ID
116988509
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
42 KB
Volume
96
Category
Article
ISSN
1096-7192

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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