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Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment

OBJECTIVE: Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types. Glomerular podocytes are relatively resistant to clearance of GL3 inclusions by enzyme replacement therapy (ERT). Migalastat, an orally b...

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Detalles Bibliográficos
Autores principales:	Mauer, Michael, Sokolovskiy, Alexey, Barth, Jay A, Castelli, Jeffrey P, Williams, Hadis N, Benjamin, Elfrida R, Najafian, Behzad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2017
Materias:	Therapeutics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740534/ https://www.ncbi.nlm.nih.gov/pubmed/28756410 http://dx.doi.org/10.1136/jmedgenet-2017-104826

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