Browsing by Subject "Transcobalamin"

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    • Assessment of cellular cobalamin metabolism in Gaucher disease 

      Basgalupp, Suelen Porto; Siebert, Marina; Ferreira, Charles Francisco; Behringer, Sidney; Spiekerkotter, Ute; Hannibal, Luciana; Schwartz, Ida Vanessa Doederlein (2020) [Journal article]
      Background: Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. ...