An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease

ObjectiveWe retrospectively screened 350,116 electronic health records (EHRs) to identify suspected patients for Pompe disease. Using these suspected patients, we then describe their phenotypical characteristics and estimate the prevalence in the respective population covered by the EHRs.MethodsWe a...

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Hlavní autoři:	Simon Lin, Jama Nateqi, Rafael Weingartner-Ortner, Stefanie Gruarin, Hannes Marling, Vinzenz Pilgram, Florian B. Lagler, Elmar Aigner, Alistair G. Martin
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2023-04-01
Edice:	Frontiers in Neurology
Témata:	electronic health records (EHR) artificial intelligence (AI) Pompe disease (glycogen storage disease type II) rare disease (RD) orphan disease retrospective screening
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fneur.2023.1108222/full
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