An Artificial Intelligence-Based Approach for Identifying Rare Disease Patients Using Retrospective Electronic Health Records Applied for Pompe Disease.

Simon Lin,Jama Nateqi,Rafael Weingartner-Ortner,Stefanie Gruarin, Hannes Marling,Vinzenz Pilgram,Florian B. Lagler,Elmar Aigner,Alistair G. Martin

FRONTIERS IN NEUROLOGY（2023）

Cited 3|Views22

Key words

electronic health records (EHR),artificial intelligence (AI),Pompe disease (glycogen storage disease type II),rare disease (RD),orphan disease,retrospective screening

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