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FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data.

Caryn J LobelDawn A LaneyJingjing YangDavid JacobAmy RickheimCarol Z OggDiana ClynesJessica Dronen
Published in: Journal of rare diseases (Berlin, Germany) (2024)
We have developed a statistical risk prediction model, the FDrisk, a validated, clinician-friendly, online, risk-assessment scoring tool for predicting an individual's risk for FD and prompting diagnostic testing and clinical evaluation. As an easily accessible, user-friendly scoring tool, we believe implementing the FDrisk will significantly decrease the time to diagnosis and allow earlier initiation of FD-specific therapy.
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