Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazil

Detalhes bibliográficos
Autor(a) principal: Scalco,Fernanda B.
Data de Publicação: 2014
Outros Autores: Oliveira,Maria Lúcia C., Simonia,Ruth E., Aquino Neto,Francisco R.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Journal of the Brazilian Chemical Society (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-50532014001000017
Resumo: Orphan neglected diseases, such as inborn errors of metabolism (IEM), affect a small percentage of the population. In Brazil, they need more attention from the public health system. Investigation of 8,000 patients in a reference analytical laboratory in Rio de Janeiro revealed 487 IEM (6.1%). The number of diagnosed cases could be larger if more specialized laboratories were available.
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spelling Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazilinborn errors of metabolismchemical analytical techniquesdiagnosispublic policyOrphan neglected diseases, such as inborn errors of metabolism (IEM), affect a small percentage of the population. In Brazil, they need more attention from the public health system. Investigation of 8,000 patients in a reference analytical laboratory in Rio de Janeiro revealed 487 IEM (6.1%). The number of diagnosed cases could be larger if more specialized laboratories were available.Sociedade Brasileira de Química2014-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-50532014001000017Journal of the Brazilian Chemical Society v.25 n.10 2014reponame:Journal of the Brazilian Chemical Society (Online)instname:Sociedade Brasileira de Química (SBQ)instacron:SBQ10.5935/0103-5053.20140203info:eu-repo/semantics/openAccessScalco,Fernanda B.Oliveira,Maria Lúcia C.Simonia,Ruth E.Aquino Neto,Francisco R.eng2014-10-27T00:00:00Zoai:scielo:S0103-50532014001000017Revistahttp://jbcs.sbq.org.brONGhttps://old.scielo.br/oai/scielo-oai.php||office@jbcs.sbq.org.br1678-47900103-5053opendoar:2014-10-27T00:00Journal of the Brazilian Chemical Society (Online) - Sociedade Brasileira de Química (SBQ)false
dc.title.none.fl_str_mv Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazil
title Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazil
spellingShingle Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazil
Scalco,Fernanda B.
inborn errors of metabolism
chemical analytical techniques
diagnosis
public policy
title_short Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazil
title_full Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazil
title_fullStr Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazil
title_full_unstemmed Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazil
title_sort Inborn errors of metabolism, an important group of orphan neglected diseases: investigation of 8,000 patients in Rio de Janeiro, Brazil
author Scalco,Fernanda B.
author_facet Scalco,Fernanda B.
Oliveira,Maria Lúcia C.
Simonia,Ruth E.
Aquino Neto,Francisco R.
author_role author
author2 Oliveira,Maria Lúcia C.
Simonia,Ruth E.
Aquino Neto,Francisco R.
author2_role author
author
author
dc.contributor.author.fl_str_mv Scalco,Fernanda B.
Oliveira,Maria Lúcia C.
Simonia,Ruth E.
Aquino Neto,Francisco R.
dc.subject.por.fl_str_mv inborn errors of metabolism
chemical analytical techniques
diagnosis
public policy
topic inborn errors of metabolism
chemical analytical techniques
diagnosis
public policy
description Orphan neglected diseases, such as inborn errors of metabolism (IEM), affect a small percentage of the population. In Brazil, they need more attention from the public health system. Investigation of 8,000 patients in a reference analytical laboratory in Rio de Janeiro revealed 487 IEM (6.1%). The number of diagnosed cases could be larger if more specialized laboratories were available.
publishDate 2014
dc.date.none.fl_str_mv 2014-10-01
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=S0103-50532014001000017
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-50532014001000017
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/0103-5053.20140203
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 Química
publisher.none.fl_str_mv Sociedade Brasileira de Química
dc.source.none.fl_str_mv Journal of the Brazilian Chemical Society v.25 n.10 2014
reponame:Journal of the Brazilian Chemical Society (Online)
instname:Sociedade Brasileira de Química (SBQ)
instacron:SBQ
instname_str Sociedade Brasileira de Química (SBQ)
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institution SBQ
reponame_str Journal of the Brazilian Chemical Society (Online)
collection Journal of the Brazilian Chemical Society (Online)
repository.name.fl_str_mv Journal of the Brazilian Chemical Society (Online) - Sociedade Brasileira de Química (SBQ)
repository.mail.fl_str_mv ||office@jbcs.sbq.org.br
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