Navegação Ciências Biológicas por Assunto "Sanfilippo syndrome"

Resultados 1-3 de 3

    • An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA 

      Wijburg, Frits; Aiach, Karen; Chakrapani, Anupam; Eisengart, Julie B.; Giugliani, Roberto; Héron, Benedicte; Muschol, Nicole; O’Neill, Cara; Olivier, Sophie; Parker, Samantha (2022) [Artigo de periódico]
      Mucopolysaccharidosis type IIIA (MPS IIIA, also known as Sanfilippo syndrome) is a rare genetic lysosomal storage disease characterized by early and progressive neurodegeneration resulting in a rapid decline in cognitive ...

    • Development of a clinical algorithm for the early diagnosis of mucopolysaccharidosis III 

      Escolar, Maria Luisa; Giugliani, Roberto; Zwaigenbaum, Lonnie (2020) [Artigo de periódico]
      Mucopolysaccharidosis III (MPS III) is a rare inherited metabolic disease primarily affecting the central nervous system, leading to developmental and/or speech regression. Early diagnosis of the disease is important to ...

    • 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. ...