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Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

✍ Scribed by Donna L. Bernstein; Martin G. Bialer; Lakshmi Mehta; Robert J. Desnick

Book ID: 116989024
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 161 KB
Volume: 101
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2010.06.003

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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