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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Bibliografische gegevens
Gepubliceerd in:JIMD Rep
Hoofdauteurs: Lagler, Florian B., Moder, Angelika, Rohrbach, Marianne, Hennermann, Julia, Mengel, Eugen, Gökce, Seyfullah, Hundsberger, Thomas, Rösler, Kai M., Karabul, Nesrin, Huemer, Martina
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley & Sons, Inc. 2019
Onderwerpen:
Research Reports
Online toegang: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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