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

Detalhes bibliográficos
Autor(a) principal: Camargo Neto,Eurico
Data de Publicação: 2018
Outros Autores: Schulte,Jaqueline, Pereira,Jamile, Bravo,Heydy, Sampaio-Filho,Claudio, Giugliani,Roberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300414
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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spelling Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in BrazilLysossomal storage diseasesneonatal screeningdigital microfluidicsBrazilAbstract 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.Sociedade Brasileira de Genética2018-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300414Genetics and Molecular Biology v.41 n.2 2018reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2017-0227info:eu-repo/semantics/openAccessCamargo Neto,EuricoSchulte,JaquelinePereira,JamileBravo,HeydySampaio-Filho,ClaudioGiugliani,Robertoeng2018-06-21T00:00:00Zoai:scielo:S1415-47572018000300414Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2018-06-21T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
title Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
spellingShingle Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
Camargo Neto,Eurico
Lysossomal storage diseases
neonatal screening
digital microfluidics
Brazil
title_short Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
title_full Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
title_fullStr Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
title_full_unstemmed Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
title_sort Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
author Camargo Neto,Eurico
author_facet Camargo Neto,Eurico
Schulte,Jaqueline
Pereira,Jamile
Bravo,Heydy
Sampaio-Filho,Claudio
Giugliani,Roberto
author_role author
author2 Schulte,Jaqueline
Pereira,Jamile
Bravo,Heydy
Sampaio-Filho,Claudio
Giugliani,Roberto
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Camargo Neto,Eurico
Schulte,Jaqueline
Pereira,Jamile
Bravo,Heydy
Sampaio-Filho,Claudio
Giugliani,Roberto
dc.subject.por.fl_str_mv Lysossomal storage diseases
neonatal screening
digital microfluidics
Brazil
topic Lysossomal storage diseases
neonatal screening
digital microfluidics
Brazil
description 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.
publishDate 2018
dc.date.none.fl_str_mv 2018-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300414
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300414
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1678-4685-gmb-2017-0227
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.41 n.2 2018
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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