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

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‐Gb3 pla...

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Detalles Bibliográficos
Autores principales:	Lamari, Foudil, Mauhin, Wladimir, Koraichi, Fairouz, Khrouf, Walid, Bordet, Celine, London, Jonathan, Lidove, Olivier, Charron, Philippe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732277/ https://www.ncbi.nlm.nih.gov/pubmed/31393666 http://dx.doi.org/10.1002/mgg3.894

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