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Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

BACKGROUND: Patients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of these patients. However, they still present residual muscle weakness. In the prese...

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Detalles Bibliográficos
Autores principales: Peng, Steven Shinn-Forng, Hwu, Wuh-Liang, Lee, Ni-Chung, Tsai, Fuu-Jen, Tsai, Wen-Hui, Chien, Yin-Hsiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869381/
https://www.ncbi.nlm.nih.gov/pubmed/27183828
http://dx.doi.org/10.1186/s13023-016-0446-7