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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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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Mauer, Michael, Sokolovskiy, Alexey, Barth, Jay A, Castelli, Jeffrey P, Williams, Hadis N, Benjamin, Elfrida R, Najafian, Behzad
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5740534/
https://ncbi.nlm.nih.gov/pubmed/28756410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-104826
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