Navegação Ciências da Saúde por Assunto "Mucopolysaccharidosis type II"

Resultados 1-2 de 2

    • Detection of mosaic variants in mothers of MPS II patients by next generation sequencing 

      Netto, Alice Brinckmann Oliveira; Facchin, Ana Carolina Brusius; Leistner-Segal, Sandra; Kubaski, Francyne; Josahkian, Juliana Alves; Giugliani, Roberto (2021) [Artigo de periódico]
      Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme. The IDS gene is located on the long arm of the X-chromosome, ...

    • Ten years of the Hunter Outcome Survey (HOS) : insights, achievements, and lessons learned from a global patient registry 

      Muenzer, Joseph; Jones, Simon A.; Tylki-Szymanska, Anna; Harmatz, Paul; Mendelsohn, Nancy J.; Guffon, Nathalie; Giugliani, Roberto; Burton, Barbara K.; Scarpa, Maurizio; Beck, Michael; Jangelind, Yvonne; Hernberg-Stahl, E.; Larsen, Maria Paabøl; Pulles, Tom; Whiteman, David A.H. (2017) [Artigo de periódico]
      Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. ...