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Fabry disease in females: organ involvement and clinical outcomes compared with the general population

Abstract Fabry disease (FD) is a rare, X-linked, progressive multi-system disorder of glycosphingolipid metabolism that causes cellular and organ damage in multiple body systems. FD has not been studied as extensively in females as in males due to greater heterogeneity of presentation and variabilit...

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Detalhes bibliográficos
Principais autores: Robert J. Hopkin, Dawn Laney, Sean Kazemi, Angela Walter
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2025-08-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
Acesso em linha:https://doi.org/10.1186/s13023-025-03922-x
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