A review and recommendations for oral chaperone therapy in adult patients with Fabry disease

A review and recommendations for oral chaperone therapy in adult patients with Fabry disease

Abstract Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting both males and females caused by genetic abnormalities in the gene encoding the enzyme α-galactosidase A. FD-affected patients represent a highly variable clinical course with first symptoms already appearing in you...

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Bibliographic Details
Main Authors: Michał Nowicki, Stanisława Bazan-Socha, Beata Błażejewska-Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia-Stec, Zofia Oko-Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek, on behalf of the Polish Fabry Disease Collaborative Group
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Lysosomal storage diseases
Fabry disease
Migalastat
Oral chaperone therapy
Online Access:https://doi.org/10.1186/s13023-024-03028-w

Internet

https://doi.org/10.1186/s13023-024-03028-w

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