• 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 ...