Articles with "pharmacogenetics identification" as a keyword



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

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Published in 2017 at "Genetics in Medicine"

DOI: 10.1038/gim.2016.122

Abstract: 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… read more here.

Keywords: hek assay; validation pharmacogenetics; pharmacogenetics identification; fabry patients ... See more keywords