| Autor: |
Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Heydy Bravo, Claudio Sampaio-Filho, Roberto Giugliani |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Genetics and Molecular Biology, Iss 0 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
1678-4685 |
| DOI: |
10.1590/1678-4685-gmb-2017-0227 |
| Popis: |
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 blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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