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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Electronic physician
2017
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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 |