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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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Detalhes bibliográficos
Publicado no:Electron Physician
Main Authors: Tehrani, Khadijeh Haji Naghi, Sakhaeyan, Elmira, Sakhaeyan, Elnaz
Formato: Artigo
Idioma:Inglês
Publicado em: Electronic physician 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5587008/
https://ncbi.nlm.nih.gov/pubmed/28894550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.19082/4886
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