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.

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.

<h4>Background</h4>Rare diseases often present with a variety of clinical symptoms and therefore are challenging to diagnose. Fabry disease is an x-linked rare metabolic disorder. The severity of symptoms is usually different in men and women. Since therapeutic options for Fabry disease...

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Main Authors: Philipp Hahn, Werner Lechner, Rainer-Georg Siefen, Christina Lampe, Peter Nordbeck, Lorenz Grigull, Thomas Lücke
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0326372
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