Navegação Ciências Biológicas por Assunto "Lysossomal storage diseases"

Resultados 1-1 de 1

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: initial results in Brazil

Camargo Neto, Eurico; Schulte, Jaqueline; Pereira, Jamile Queiroz; Villalta, Heydy Varinia Bravo; Sampaio Filho, Claudio Augusto; Giugliani, Roberto (2018) [Artigo de periódico]

We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients ...