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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:JIMD Rep
Päätekijät: Lagler, Florian B., Moder, Angelika, Rohrbach, Marianne, Hennermann, Julia, Mengel, Eugen, Gökce, Seyfullah, Hundsberger, Thomas, Rösler, Kai M., Karabul, Nesrin, Huemer, Martina
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley & Sons, Inc. 2019
Aiheet:
Research Reports
Linkit: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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