✦ LIBER ✦

Prognostic factors for late-onset Pompe disease with enzyme replacement therapy: The two sides of low BMI

✍ Scribed by Sabrina Ravaglia; Annalisa Carlucci; Cesare Danesino

Book ID: 116988995
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 125 KB
Volume: 100
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2010.04.005

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prognostic factors for the late onset Po

Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case

✍ Hiroshi Kobayashi; Yohta Shimada; Masahiro Ikegami; Toshinao Kawai; Ken Sakurai; 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 828 KB

G.P.11.03 Variable response to enzyme re

G.P.11.03 Variable response to enzyme replacement therapy in children and adults with Pompe disease: Need for identification of prognostic factors

✍ N.A.M. van der Beek; C.I. van Capelle; J.M. de Vries; A.J.J. Reuser; P.A. van Do 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 50 KB

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

M.P.2.02 A family with multiple members

M.P.2.02 A family with multiple members affected by late-onset Pompe disease due to the R224W(670C > T) mutation: Potential candidates for enzyme replacement therapy?

✍ P. Vondracek; M. Hermanova; H. Oslejskova; J. Soukalova; R. Gaillyova; V. Malino 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 47 KB