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A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm

BACKGROUND: Fabry disease (FD) is a rare genetic disorder characterized by glycosphingolipid accumulation and progressive damage across multiple organ systems. Due to its heterogeneous presentation, the condition is likely significantly underdiagnosed. Several approaches, including provider educatio...

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Detalles Bibliográficos
Autores principales: Jefferies, John L., Spencer, Alison K., Lau, Heather A., Nelson, Matthew W., Giuliano, Joseph D., Zabinski, Joseph W., Boussios, Costas, Curhan, Gary, Gliklich, Richard E., Warnock, David G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686369/
https://www.ncbi.nlm.nih.gov/pubmed/34930374
http://dx.doi.org/10.1186/s13023-021-02150-3