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

OBJECTIVE: We 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. METHODS:...

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Detalles Bibliográficos
Autores principales: Lin, Simon, Nateqi, Jama, Weingartner-Ortner, Rafael, Gruarin, Stefanie, Marling, Hannes, Pilgram, Vinzenz, Lagler, Florian B., Aigner, Elmar, Martin, Alistair G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160659/
https://www.ncbi.nlm.nih.gov/pubmed/37153672
http://dx.doi.org/10.3389/fneur.2023.1108222

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