Navegação Produção Científica por Assunto "Lysosomal disorders"

Resultados 1-2 de 2

    • Genomic analysis of Brazilian patients with fabry disease 

      Pereira, Fernanda dos Santos; Jardim, Laura Bannach; Netto, Cristina Brinckmann Oliveira; Burin, Maira Graeff; Cecchin, Cláudia Rafaela; Giugliani, Roberto; Matte, Ursula da Silveira (2007) [Artigo de periódico]
      Fabry disease is an X-linked lysosomal disorder due to α-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, ...

    • Oropharyngeal dysphagia in Mucopolysaccharidoses : evidence from videofluoroscopic swallowing study 

      Carneiro, Luciana Behs de Sá; Souza, Carolina Fischinger Moura de; Giugliani, Roberto; Fagondes, Simone Chaves (2022) [Artigo de periódico]
      Mucopolysaccharidoses (MPS) are rare inborn errors of metabolism, leading to the accumulation of glycosaminoglycans (GAG) in distinct tissues. We investigated oropharyngeal dysphagia using the videofluoroscopic swallowing ...