• Newborn screening for lysosomal disorders in Brazil : a pilot study using customized fluorimetric assays 

      Bender, Fernanda; Burin, Maira Graeff; Medeiros, Fernanda; Bitencourt, Fernanda Hendges de; Civallero, Gabriel Eduardo Santiago; Kubaski, Francyne; Bravo, Heydy; Daher, Antonio; Carnier, Vanessa; Franco, José Franco; Giugliani, Roberto (2020) [Artigo de periódico]
      Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and ...