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Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

BACKGROUND: Early diagnosis is of substantial benefit for patients with Pompe disease. Yet underdiagnosing and substantial diagnostic delay are still frequent and the determinants of this are unknown. This study is the first to systematically investigate the diagnostic odyssey in Pompe disease from...

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Bibliografski detalji
Izdano u:JIMD Rep
Glavni autori: Lagler, Florian B., Moder, Angelika, Rohrbach, Marianne, Hennermann, Julia, Mengel, Eugen, Gökce, Seyfullah, Hundsberger, Thomas, Rösler, Kai M., Karabul, Nesrin, Huemer, Martina
Format: Artigo
Jezik:Inglês
Izdano: John Wiley & Sons, Inc. 2019
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6718115/
https://ncbi.nlm.nih.gov/pubmed/31497486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12062
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