Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure

BACKGROUND: The cause of chronic kidney disease (CKD) remains unknown in ∼20% of patients with kidney failure. Massively parallel sequencing (MPS) can be a valuable diagnostic tool in patients with unexplained CKD, with a diagnostic yield of 12%–56%. Here, we report the use of MPS to establish a gen...

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Detalles Bibliográficos
Autores principales: de Haan, Amber, Morel, Chantal F, Eijgelsheim, Mark, de Jong, Margriet F C, Broekroelofs, Jan, Vogt, Liffert, Knoers, Nine V A M, de Borst, Martin H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10061419/
https://www.ncbi.nlm.nih.gov/pubmed/37007699
http://dx.doi.org/10.1093/ckj/sfac269

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