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Published in 2019 at "Molecular Genetics and Metabolism"
DOI: 10.1016/j.ymgme.2018.12.197
Abstract: Fabry disease is an X-linked lysosomal storage disorder caused by a mutation in the GLA gene, resulting in the functional deficiency of α-galactosidase A (α-Gal A). Migalastat is a pharmacological chaperone that binds to and stabilizes amenable forms of…
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Keywords:
race;
males females;
migalastat pharmacokinetic;
test ... See more keywords