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    • Mutações D313Y e R118C investigação da patogenicidade 

      Goh, Cibele Keiko [UNIFESP] (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 ...