Cargando…

Magnitude of the Potential Screening Gap for Fabry Disease in Manitoba: A Population-Based Retrospective Cohort Study

BACKGROUND: Fabry disease is a rare disorder caused by the deficient activity of α-galactosidase A (GLA) that often leads to organ damage. Fabry disease can be treated with enzyme replacement or pharmacological therapy, but due to its rarity and nonspecific manifestations, it often goes undiagnosed....

Descripción completa

Detalles Bibliográficos
Autores principales: Whitlock, Reid H., Nour-Mohammadi, Mohammad, Curtis, Sarah, Komenda, Paul, Bohm, Clara, Collister, David, Tangri, Navdeep, Rigatto, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10031591/
https://www.ncbi.nlm.nih.gov/pubmed/36970566
http://dx.doi.org/10.1177/20543581231162218