The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

PURPOSE: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of α-galactosidase A to restore lysosomal activity. METHODS: A pharmacogenetic assay was used to identify the α-...

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Detalles Bibliográficos
Autores principales: Benjamin, Elfrida R., Della Valle, Maria Cecilia, Wu, Xiaoyang, Katz, Evan, Pruthi, Farhana, Bond, Sarah, Bronfin, Benjamin, Williams, Hadis, Yu, Julie, Bichet, Daniel G., Germain, Dominique P., Giugliani, Roberto, Hughes, Derralynn, Schiffmann, Raphael, Wilcox, William R., Desnick, Robert J., Kirk, John, Barth, Jay, Barlow, Carrolee, Valenzano, Kenneth J., Castelli, Jeff, Lockhart, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392595/
https://www.ncbi.nlm.nih.gov/pubmed/27657681
http://dx.doi.org/10.1038/gim.2016.122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392595/
https://www.ncbi.nlm.nih.gov/pubmed/27657681
http://dx.doi.org/10.1038/gim.2016.122

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