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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Dades bibliogràfiques
Publicat a:JIMD Rep
Autors principals: Lagler, Florian B., Moder, Angelika, Rohrbach, Marianne, Hennermann, Julia, Mengel, Eugen, Gökce, Seyfullah, Hundsberger, Thomas, Rösler, Kai M., Karabul, Nesrin, Huemer, Martina
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2019
Matèries:
Research Reports
Accés en línia: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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