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

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 blood spo...

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Detalles Bibliográficos
Autores principales: Camargo, Eurico, Schulte, Jaqueline, Pereira, Jamile, Bravo, Heydy, Sampaio-Filho, Claudio, Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2018
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082237/
https://www.ncbi.nlm.nih.gov/pubmed/29870571
http://dx.doi.org/10.1590/1678-4685-GMB-2017-0227

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082237/
https://www.ncbi.nlm.nih.gov/pubmed/29870571
http://dx.doi.org/10.1590/1678-4685-GMB-2017-0227

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