Browsing by Subject "Sphingolipidoses"
Now showing items 1-1 of 1
-
Mutações D313Y e R118C investigação da patogenicidade
(Universidade Federal de São Paulo (UNIFESP), 2020-12-18)Fabry disease (FD) is an innate error in the metabolism of glycosphingolipids that causes the absence or deficiency of the enzyme α-galactosidase A (α-Gal A). This disease results in the accumulation of the glycosphingolipid ...