Navegação Ciências da Saúde por Assunto "Mucopolysaccharidosis IIIB"

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    • Sanfilippo syndrome : the tale of a challenging diagnosis 

      Baldini, Giulianna; Palmejiani, José Fernando; Sant’Anna, João Pedro Bonevechio; Carneiro, Zumira Aparecida; Giugliani, Roberto; Pereira, Catarina; Cozma, Claudia; O’Neill, Cara; Lourenço, Charles Marques (2020) [Artigo de periódico]
      Sanfilippo syndrome or mucopolysaccharidosis III (MPS III), includes a group of four autosomal recessive lysosomal storage disorders caused by deficient activity of enzymes involved in the catabolism of heparan sulfate. ...