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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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Bibliographische Detailangaben
Veröffentlicht in:Electron Physician
Hauptverfasser: Tehrani, Khadijeh Haji Naghi, Sakhaeyan, Elmira, Sakhaeyan, Elnaz
Format: Artigo
Sprache:Inglês
Veröffentlicht: Electronic physician 2017
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Online Zugang: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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