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

• Главные авторы: Claudia Nuñez‐Peralta (Автор), Jorge Alonso‐Pérez (Автор), Jaume Llauger (Автор), Sonia Segovia (Автор), Paula Montesinos (Автор), Izaskun Belmonte (Автор), Irene Pedrosa (Автор), Elena Montiel (Автор), Alicia Alonso‐Jiménez (Автор), Javier Sánchez‐González (Автор), Antonio Martínez‐Noguera (Автор), Isabel Illa (Автор), Jordi Díaz‐Manera (Автор)
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• Опубликовано: Wiley, 2020-08-01T00:00:00Z.
• Предметы: article
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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...