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    • Genomic analysis of Brazilian patients with fabry disease 

      Pereira, Fernanda dos Santos; Jardim, Laura Bannach; Netto, Cristina Brinckmann Oliveira; Burin, Maira Graeff; Cecchin, Cláudia Rafaela; Giugliani, Roberto; Matte, Ursula da Silveira (2007) [Journal article]
      Fabry disease is an X-linked lysosomal disorder due to α-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, ...