• Population analysis of the GLB1 gene in South Brazil 

      Baiotto, Cléia Rosani; Sperb, Fernanda; Matte, Ursula da Silveira; Silva, Claudia Dornelles da; Sano, Renata; Coelho, Janice Carneiro; Giugliani, Roberto (2011) [Artigo de periódico]
      Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the ...