𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

✍ Scribed by Wolfgang Müller-Felber; Rita Horvath; Klaus Gempel; Teodor Podskarbi; Yoon Shin; Dieter Pongratz; Maggie C. Walter; Martina Baethmann; Beate Schlotter-Weigel; Hanns Lochmüller; Benedikt Schoser


Book ID
116792854
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
122 KB
Volume
17
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A novel mutation of the GAA gene in a Fi
✍ 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