Improving a data mining based diagnostic support tool for rare diseases on the example of M. Fabry: Gender differences need to be taken into account
This study illustrates on the example of Fabry disease that differences between female and male Fabry patients, not only in the expression of symptoms, but also with regard to disease perception, might be relevant influencing variables for improving the performance of AI-based diagnostic support tools for rare diseases.
Authors
- Christina Lampe (ORCID: https://orcid.org/0000-0003-4953-7119)
- Werner Lechner (ORCID: https://orcid.org/0000-0003-4255-5269)
- Lorenz Grigull (ORCID: https://orcid.org/0000-0001-8807-2874)
- Peter Nordbeck (ORCID: https://orcid.org/0000-0002-2560-4068)
- Philipp Hahn
- Rainer-Georg Siefen
- Thomas Lücke
Institutions
- University Hospital Bonn (DE)
- University Hospitals of the Ruhr-University of Bochum (DE)
- University Hospital Münster (DE)
- Affimed Therapeutics (Germany) (DE)
- Universitätsklinikum Würzburg (DE)
- Ruhr University Bochum (DE)
Publication Details
- Journal
- PLoS ONE
- Published
- 2025-06-30
- DOI
- https://doi.org/10.1371/journal.pone.0326372
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00