| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
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| Autores: |
Camargo Neto,Eurico
Schulte,Jaqueline
Pereira,Jamile
Bravo,Heydy
Sampaio-Filho,Claudio
Giugliani,Roberto
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| Data: |
2018-06-01
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| Ano: |
2018
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| Palavras-chave: |
Lysossomal storage diseases
Neonatal screening
Digital microfluidics
Brazil
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| Resumo: |
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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300414
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/1678-4685-gmb-2017-0227
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.41 n.2 2018
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| Direitos: |
info:eu-repo/semantics/openAccess
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