Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy

Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy

Abstract Background Fabry disease (OMIM 301500) is an X‐linked disorder caused by alpha‐galactosidase A (α‐Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has been reported to improve or stabilize organ damages and reduce lyso...

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Bibliographic Details
Main Authors: Foudil Lamari, Wladimir Mauhin, Fairouz Koraichi, Walid Khrouf, Celine Bordet, Jonathan London, Olivier Lidove, Philippe Charron
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
alpha‐galactosidase A
cardiomyopathy
Fabry disease
leukocytes
migalastat
Online Access:https://doi.org/10.1002/mgg3.894

Internet

https://doi.org/10.1002/mgg3.894

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