• Migalastat HCl reduces globotriaosylsphingosine (Lyso- Gb3) in Fabry transgenic mice and in the plasma of Fabry patients 

      Young-Gqamana, Brandy; Brignol, N.; Chang, Hui-Hwa; Khanna, R.; Soska, R.; Fuller, Maria; Sitaraman, Sheela; Germain, Dominique P.; Giugliani, Roberto; Hughes, Derralynn A.; Mehta, Atul B.; Nicholls, Kathy; Boudes, Pol F.; Lockhart, D.J.; Valenzano, K.J.; Benjamin, Elfrida R. (2013) [Artigo de periódico]
      Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A (a-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine ...