Navegação por Assunto "Prenatal analysis"

Resultados 1-1 de 1

    • Measurement of sulfatides in the amniotic fluid supernatant : a useful tool in the prenatal diagnosis of metachromatic leukodystrophy 

      Kubaski, Francyne; Herbst, Zackary M.; Burin, Maira Graeff; Tirelli, Kristiane Michelin; Trapp, Franciele Barbosa; Kessler, Rejane Gus; Netto, Alice Brinckmann Oliveira; Facchin, Ana Carolina Brusius; Leistner-Segal, Sandra; Sanseverino, Maria Teresa Vieira; Souza, Carolina Fischinger Moura de; Wilke, Matheus Vernet Machado Bressan; Oliveira, Thiago; Magalhães, Jose Antonio de Azevedo; Giugliani, Roberto (2022) [Artigo de periódico]
      Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood ...