This paper is in the following e-collection/theme issue:

Applications of AI (317) Symptom Checkers (43) Artificial Intelligence (2252) Clinical Information and Decision Making (2007) Decision Support for Health Professionals (1593) Responsible Health AI (67) Machine Learning (2173)

Published on in Vol 4 (2025)

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/55001, first published .
Medical Expert Knowledge Meets AI to Enhance Symptom Checker Performance for Rare Disease Identification in Fabry Disease: Mixed Methods Study

Medical Expert Knowledge Meets AI to Enhance Symptom Checker Performance for Rare Disease Identification in Fabry Disease: Mixed Methods Study

Medical Expert Knowledge Meets AI to Enhance Symptom Checker Performance for Rare Disease Identification in Fabry Disease: Mixed Methods Study

Authors of this article:

Anne Pankow1, 2 Author Orcid Image ;   Nico Meißner-Bendzko3 Author Orcid Image ;   Jessica Kaufeld4 Author Orcid Image ;   Laura Fouquette3 Author Orcid Image ;   Fabienne Cotte3 Author Orcid Image ;   Stephen Gilbert5 Author Orcid Image ;   Ewelina Türk3 Author Orcid Image ;   Anibh Das6 Author Orcid Image ;   Christoph Terkamp2 Author Orcid Image ;   Gerhard-Rüdiger Burmester1 Author Orcid Image ;   Annette Doris Wagner4 Author Orcid Image
Article Authors Cited by (3) Tweetations Metrics

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  1. Pande S, Varzideh F, Gambardella J, Jankauskas S, Cerasuolo F, Spinelli L, Kansakar U, De Luca A, Kurland I, Sidoli S, Iaccarino G, Sadoshima J, Santulli G. Fabry disease cardiomyopathy: A state-of-the-art review. Progress in Cardiovascular Diseases 2025;92:43 View
  2. Al Saleh T, Qadeer Y, Yue B, Pieroni M, Hachem K, Poswar F, Giugliani R, Vardarli I, Wallace E, Krittanawong C. Fabry disease cardiomyopathy: A practical guide for cardiologists. Current Problems in Cardiology 2026;51(4):103266 View

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  1. Wu J, Mei X, He K, Xu J, Lin Q, Gao Z, Mao R. 2025 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). Neuro-Symbolic AI in Healthcare View