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Evaluation prevalence of Pompe disease in Iranian patients with myopathies of unknown etiology

BACKGROUND: Pompe disease is a rare but potentially treatable metabolic disorder having an estimated worldwide incidence of one in forty thousand live births. While the introduction of enzyme replacement therapy (ERT) has considerably increased the awareness of the disease, the delay in diagnosis is...

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Detalles Bibliográficos
Autores principales: Tehrani, Khadijeh Haji Naghi, Sakhaeyan, Elmira, Sakhaeyan, Elnaz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Electronic physician 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587008/
https://www.ncbi.nlm.nih.gov/pubmed/28894550
http://dx.doi.org/10.19082/4886