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

Elfrida R BenjaminMaria Cecilia Della ValleXiaoyang WuEvan KatzFarhana PruthiSarah BondBenjamin BronfinHadis WilliamsJulie YuDaniel G BichetDominique Paul Germain Roberto Giugliani Derralynn A HughesRaphael SchiffmannWilliam Ross WilcoxRobert J DesnickJohn KirkJay BarthCarrolee BarlowKenneth J ValenzanoJeff Castelli David J Lockhart

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

The GLP HEK assay is a clinically validated method of identifying male and female Fabry patients for treatment with migalastat.Genet Med 19 4, 430-438.

Keyphrases

newly diagnosed
ejection fraction
prognostic factors
heart failure
replacement therapy
high throughput
hypertrophic cardiomyopathy
single cell
bioinformatics analysis