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

Abstract 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 previously diagnosed with these diseases and was used to test dried...

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Bibliographic Details
Main Authors: Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Heydy Bravo, Claudio Sampaio-Filho, Roberto Giugliani
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2018-06-01
Series:Genetics and Molecular Biology
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018005010103&lng=en&tlng=en