Article
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.
Molecular genetics and metabolism - 1 Jul 2023
Wanner Christoph, Ortiz Alberto, Wilcox William R, Hopkin Robert J, Johnson Jack, Ponce Elvira, Ebels Johan T, Batista Julie L, Maski Manish, Politei Juan M, Martins Ana Maria, Banikazemi Maryam, Linhart Aleš, Mauer Michael, Oliveira João P, Weidemann Frank, Germain Dominique P
Abstract excerpt
Fabry disease (FD, α-galactosidase A deficiency) is a rare, progressive, complex lysosomal storage disorder affecting multiple organ systems with a diverse spectrum of clinical phenotypes, particularly among female patients. Knowledge of its clinical course was still limited in 2001 when FD-specific therapies first became available and the Fabry Registry (NCT00196742; sponsor: Sanofi) was initiated as a global...
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