Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário

Detalhes bibliográficos
Autor(a) principal: Amâncio, Fátima Aparecida Mazzini [UNESP]
Data de Publicação: 2007
Outros Autores: Scalco, Fernanda Bertão, Coelho, Cláudio Antonio Rabello [UNESP]
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://hdl.handle.net/11449/224957
Resumo: Objective: To establish the frequency of inborn errors of metabolism (IEM) in a cohort of patients with a diagnostic hypothesis of IEM, deriving from the Hospital das Clínicas da Faculdade de Medicina de Botucatu of UNESP and to analyse the methodology used for this investigation. Methods: 1,233 urine samples from 905 patients were screened for IEM by chemical tests and chromatographic techniques. Results: IEM were diagnosed in 18 patients; twelve of these showed alterations in the IEM screening procedures (chemical tests and chromatography). All the 18 patients were diagnosed by enzymatic analyses. Conclusion: The IEM frequency diagnosed in this study (1.98%) was reasonable, since this group of patients came from a single hospital. The methodology proved to be efficient, indicating 12 IEM cases among the 18 diagnosed. The study shows the importance of specialized laboratories for the detection of this kind of pathology.
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spelling Investigação diagnóstica de erros inatos do metabolismo em um hospital universitárioDiagnostic investigation of inborn errors of metabolism in a university hospitalInborn errors of metabolismScreeningObjective: To establish the frequency of inborn errors of metabolism (IEM) in a cohort of patients with a diagnostic hypothesis of IEM, deriving from the Hospital das Clínicas da Faculdade de Medicina de Botucatu of UNESP and to analyse the methodology used for this investigation. Methods: 1,233 urine samples from 905 patients were screened for IEM by chemical tests and chromatographic techniques. Results: IEM were diagnosed in 18 patients; twelve of these showed alterations in the IEM screening procedures (chemical tests and chromatography). All the 18 patients were diagnosed by enzymatic analyses. Conclusion: The IEM frequency diagnosed in this study (1.98%) was reasonable, since this group of patients came from a single hospital. The methodology proved to be efficient, indicating 12 IEM cases among the 18 diagnosed. The study shows the importance of specialized laboratories for the detection of this kind of pathology.Laboratório de Erros Inatos do Metabolismo Faculdade de Medicina de Botucatu Universidade Estadual Paulista (UNESP)Departamento de Bioquímica Instituto de Química Universidade Federal do Rio de Janeiro (UFRJ)Departamento de Pediatria Faculdade de Medicina de Botucatu UNESPLaboratório de Erros Inatos do Metabolismo Faculdade de Medicina de Botucatu Universidade Estadual Paulista (UNESP)Departamento de Pediatria Faculdade de Medicina de Botucatu UNESPUniversidade Estadual Paulista (UNESP)Universidade Federal do Rio de Janeiro (UFRJ)Amâncio, Fátima Aparecida Mazzini [UNESP]Scalco, Fernanda BertãoCoelho, Cláudio Antonio Rabello [UNESP]2022-04-28T20:19:46Z2022-04-28T20:19:46Z2007-05-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article169-174Jornal Brasileiro de Patologia e Medicina Laboratorial, v. 43, n. 3, p. 169-174, 2007.1676-24441678-4774http://hdl.handle.net/11449/2249572-s2.0-34548803467Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPporJornal Brasileiro de Patologia e Medicina Laboratorialinfo:eu-repo/semantics/openAccess2022-04-28T20:19:46Zoai:repositorio.unesp.br:11449/224957Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462022-04-28T20:19:46Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
Diagnostic investigation of inborn errors of metabolism in a university hospital
title Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
spellingShingle Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
Amâncio, Fátima Aparecida Mazzini [UNESP]
Inborn errors of metabolism
Screening
title_short Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
title_full Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
title_fullStr Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
title_full_unstemmed Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
title_sort Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário
author Amâncio, Fátima Aparecida Mazzini [UNESP]
author_facet Amâncio, Fátima Aparecida Mazzini [UNESP]
Scalco, Fernanda Bertão
Coelho, Cláudio Antonio Rabello [UNESP]
author_role author
author2 Scalco, Fernanda Bertão
Coelho, Cláudio Antonio Rabello [UNESP]
author2_role author
author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (UNESP)
Universidade Federal do Rio de Janeiro (UFRJ)
dc.contributor.author.fl_str_mv Amâncio, Fátima Aparecida Mazzini [UNESP]
Scalco, Fernanda Bertão
Coelho, Cláudio Antonio Rabello [UNESP]
dc.subject.por.fl_str_mv Inborn errors of metabolism
Screening
topic Inborn errors of metabolism
Screening
description Objective: To establish the frequency of inborn errors of metabolism (IEM) in a cohort of patients with a diagnostic hypothesis of IEM, deriving from the Hospital das Clínicas da Faculdade de Medicina de Botucatu of UNESP and to analyse the methodology used for this investigation. Methods: 1,233 urine samples from 905 patients were screened for IEM by chemical tests and chromatographic techniques. Results: IEM were diagnosed in 18 patients; twelve of these showed alterations in the IEM screening procedures (chemical tests and chromatography). All the 18 patients were diagnosed by enzymatic analyses. Conclusion: The IEM frequency diagnosed in this study (1.98%) was reasonable, since this group of patients came from a single hospital. The methodology proved to be efficient, indicating 12 IEM cases among the 18 diagnosed. The study shows the importance of specialized laboratories for the detection of this kind of pathology.
publishDate 2007
dc.date.none.fl_str_mv 2007-05-01
2022-04-28T20:19:46Z
2022-04-28T20:19:46Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial, v. 43, n. 3, p. 169-174, 2007.
1676-2444
1678-4774
http://hdl.handle.net/11449/224957
2-s2.0-34548803467
identifier_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial, v. 43, n. 3, p. 169-174, 2007.
1676-2444
1678-4774
2-s2.0-34548803467
url http://hdl.handle.net/11449/224957
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 169-174
dc.source.none.fl_str_mv Scopus
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
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