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Autor:
Rocío Ortíz-Orozco, Ernesto Prado Montes de Oca, Luis E. Figuera, Ulrich Orth, Jaime Paul Gutiérrez-Amavizca, Bianca Ethel Gutiérrez-Amavizca, Andreas Gal
Publikováno v:
Journal of Genetics. 96:161-164
Fabry disease (FD) is a lysosomal storage disorder, which develops due to a deficiency in the hydrolytic enzyme, α-galactosidase A (α-Gal A). Alpha-Gal A hydrolyzes glycosphingolipid globotriaosylceramide (Gb3), and an α-Gal A deficiency leads to