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G.P.8.08 Early results in a cohort of late-onset Pompe patients treated with enzyme replacement

✍ Scribed by D. de Castro; K. Laloui; V. Doppler; C.A.M. Payan; A. Thomé; P. Laforêt

Book ID
116794065
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
41 KB
Volume
19
Category
Article
ISSN
0960-8966

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A novel mutation of the GAA gene in a Fi
A novel mutation of the GAA gene in a Finnish late-onset pompe disease patient: Clinical phenotype and follow-up with enzyme replacement therapy
✍ Mari P. Korpela; Anders Paetau; Mervi I. Löfberg; Marjut H. Timonen; Antti E. La 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 139 KB

## 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