• A case report on the challenging diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2) 

      Nunes, Andrea; Meira, Joanna; Cunha, Caio; Veiga, Marielza; Magalhães, Ana Paula Pereira Sholz de; Málaga, Diana Elizabeth Rojas; Giugliani, Roberto; Leão, Emília Katiane Embiruçu de Araújo (2020) [Artigo de periódico]
      Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the lysosomal storage disorders. CLN type 2 (CLN2) is caused by the deficient ...
    • Neuronal ceroide lipofuscinose : a clinical and morphological study of 17 patients from southern Brazil 

      Puga, Ana Cristina Scheidt; Jardim, Laura Bannach; Souza, Carolina Fischinger Moura de (2000) [Artigo de periódico]
      The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three main childhood forms can be established on the basis of age of ...