Clinical management of female patients with Fabry disease based on expert consensus

Clinical management of female patients with Fabry disease based on expert consensus

Abstract Fabry disease is an X-linked lysosomal storage disorder that causes accumulation of glycosphingolipids in body tissues and fluids, leading to progressive organ damage and life-threatening complications. It can affect both males and females and can be classified into classic or later-onset p...

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Bibliographic Details
Main Authors: Eva Brand, Aleš Linhart, Patrick Deegan, Ruxandra Jurcut, Antonio Pisani, Roser Torra, Ulla Feldt-Rasmussen
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Fabry disease
Female
Early diagnosis
Enzyme replacement therapy
Patient-reported outcome measures
Online Access:https://doi.org/10.1186/s13023-024-03500-7
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