Navegação Ciências Biológicas por Autor "Josahkian, Juliana Alves"

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, ...

    • Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions 

      Josahkian, Juliana Alves; Trapp, Franciele Barbosa; Burin, Maira Graeff; Tirelli, Kristiane Michelin; Magalhães, Ana Paula Pereira Sholz de; Sebastião, Fernanda Medeiros; Bender, Fernanda; De Mari, Jurema de Fatima; Facchin, Ana Carolina Brusius; Leistner-Segal, Sandra; Málaga, Diana Elizabeth Rojas; Giugliani, Roberto (2021) [Artigo de periódico]
      The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, ...