Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States

BACKGROUND: Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset of complications. Yet, many endure years-long diagnostic odysseys. We report the development of a machine learning algorithm to identify patients wit...

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Detalles Bibliográficos
Autores principales: Wilson, Amanda, Chiorean, Alexandra, Aguiar, Mario, Sekulic, Davorka, Pavlick, Patrick, Shah, Neha, Sniderman King, Lisa, Génin, Marie, Rollot, Mélissa, Blanchon, Margot, Gosset, Simon, Montmerle, Martin, Molony, Cliona, Dumitriu, Alexandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10492341/
https://www.ncbi.nlm.nih.gov/pubmed/37689674
http://dx.doi.org/10.1186/s13023-023-02868-2

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