An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records

Abstract Pompe disease (OMIM #232300), a rare genetic disorder, leads to glycogen buildup in the body due to an enzyme deficiency, particularly harming the heart and muscles. Infantile-onset Pompe disease (IOPD) requires urgent treatment to prevent mortality, but the unavailability of these methods...

Description complète

Détails bibliographiques

Auteurs principaux:	Jaloliddin Rustamov, Zahiriddin Rustamov, Mohd Saberi Mohamad, Nazar Zaki, Amal Al Tenaiji, Mariam Al Harbi, Fatma Al Jasmi
Format:	Artigo
Langue:	Inglês
Publié:	Nature Portfolio 2024-09-01
Collection:	Scientific Reports
Sujets:	Pompe disease Infantile onset Pompe disease Electronic health records Expert rule-based screening PowerBI Dashboard analytics
Accès en ligne:	https://doi.org/10.1038/s41598-024-72259-5
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!