Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

Pompe disease is an autosomal recessive, lysosomal glycogen storage disease caused by acid α-glucosidase deficiency. Infantile-onset Pompe disease (IOPD) is the most severe form and is characterized by cardiomyopathy, respiratory distress, hepatomegaly, and skeletal muscle weakness. Untreated, IOPD...

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Detalles Bibliográficos
Autores principales: Matsuoka, Takashi, Miwa, Yoshiyuki, Tajika, Makiko, Sawada, Madoka, Fujimaki, Koichiro, Soga, Takashi, Tomita, Hideshi, Uemura, Shigeru, Nishino, Ichizo, Fukuda, Tokiko, Sugie, Hideo, Kosuga, Motomichi, Okuyama, Torayuki, Umeda, Yoh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121151/
https://www.ncbi.nlm.nih.gov/pubmed/27896132
http://dx.doi.org/10.1016/j.ymgmr.2016.11.001

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