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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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Détails bibliographiques
Publié dans:Electron Physician
Auteurs principaux: Tehrani, Khadijeh Haji Naghi, Sakhaeyan, Elmira, Sakhaeyan, Elnaz
Format: Artigo
Langue:Inglês
Publié: Electronic physician 2017
Sujets:
Accès en ligne: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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