Follow‐up of late‐onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles

• Asıl Yazarlar: Claudia Nuñez‐Peralta (Yazar), Jorge Alonso‐Pérez (Yazar), Jaume Llauger (Yazar), Sonia Segovia (Yazar), Paula Montesinos (Yazar), Izaskun Belmonte (Yazar), Irene Pedrosa (Yazar), Elena Montiel (Yazar), Alicia Alonso‐Jiménez (Yazar), Javier Sánchez‐González (Yazar), Antonio Martínez‐Noguera (Yazar), Isabel Illa (Yazar), Jordi Díaz‐Manera (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Wiley, 2020-08-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background Late‐onset Pompe disease (LOPD) is a genetic disorder characterized by progressive degeneration of the skeletal muscles produced by a deficiency of the enzyme acid alpha‐glucosidase. Enzymatic replacement therapy with recombinant human alpha‐glucosidase seems to reduce the progre...