Now showing items 1-2 of 2

    • Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis (MPS IVA) 

      Dieter, Tatiana; Matte, Ursula da Silveira; Schwartz, Ida Vanessa Doederlein; Tomatsu, Shunji; Giugliani, Roberto (2007) [Journal article]
      Morquio A Syndrome (mucopolysaccharidosis IVA - MPS IVA, OMIM# 253000) is an autosomal recessive inborn error of metabolism caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). We investigated ...
    • Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives 

      Kubaski, Francyne; Sousa, Inês; Amorim, Tatiana; Pereira, Danilo; Trometer, Joe; Souza, Alexandre; Ranieri, Enzo; Polo, Giulia; Burlina, A.; Facchin, Ana Carolina Brusius; Oliveira Netto, Alice Brinckmann; Tomatsu, Shunji; Giugliani, Roberto (2020) [Journal article]
      Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming ...