Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia

Detalhes bibliográficos
Autor(a) principal: Pereira, Maria Betânia
Data de Publicação: 1997
Outros Autores: Conceição, Gildásio Carvalho da, Coelho, Janice C., Wajner, Moacir, Giugliani, Roberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://www.repositorio.ufba.br/ri/handle/ri/5826
Resumo: p.209-212
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spelling Pereira, Maria BetâniaConceição, Gildásio Carvalho daCoelho, Janice C.Wajner, MoacirGiugliani, RobertoPereira, Maria BetâniaConceição, Gildásio Carvalho daCoelho, Janice C.Wajner, MoacirGiugliani, Roberto2012-05-10T19:31:24Z2012-05-10T19:31:24Z19970004-282Xhttp://www.repositorio.ufba.br/ri/handle/ri/5826v. 55, n. 2p.209-212The purpose of this pilot-study was to evaluate the applicability of a screening protocol for the detection of inborn errors of metabolism (IEM) in high-risk patients. The protocol was applied in 65 patients referred to the Medical Genetics Laboratory of the University Hospital Professor Edgard Santos due to the suspicion of na IEM. Eight of these patients (12.3%) displayed an abnormal result in the screening protocol. These patients, along with 22 who displayed normal results in the screening protocol but who presented clinical symptoms or signs suggestive of an IEM not detectable by the tests applied, were selected for a further diagnostic investigation. In 5 of these 30 patients (7.7% of the total sample) it was possible to establish the diagnosis of an specific IEM. The results indicate that the designed screening protocol was sucessfully applied, allowing the detection of affected patients in a frequency comparable to that observed in larger studies performed elsewhere. The continuation of this study and the enlargement of the sample will help to delineate the profile of IEM in northeast of Brazil and will allow the identification of a significative number of patients and families, who could benefit from the therapeutic and preventive measures available for these diseases.Submitted by Texeira Ana (atanateixeira@gmail.com) on 2012-05-10T19:31:24Z No. of bitstreams: 1 Pereira, Maria Betânia.pdf: 416259 bytes, checksum: 523fb4617fca70b4620e3f4e60433efc (MD5)Made available in DSpace on 2012-05-10T19:31:24Z (GMT). No. of bitstreams: 1 Pereira, Maria Betânia.pdf: 416259 bytes, checksum: 523fb4617fca70b4620e3f4e60433efc (MD5) Previous issue date: 1997São PauloAssociação Arquivos de Neuro-Psiquiatria Dr. Oswaldo Langehttp://dx.doi.org/10.1590/S0004-282X1997000200007reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAMental deficiencyInborn errors of metabolismMetabolic disordersAmino acid disordersLysosomal disordersDetection of metabolic disorders in high-risk patients: a pilot study in Salvador, BahiaArq Neuropsiquiatrinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleenginfo:eu-repo/semantics/openAccessORIGINALPereira, Maria Betânia.pdfPereira, Maria Betânia.pdfapplication/pdf416259https://repositorio.ufba.br/bitstream/ri/5826/1/Pereira%2c%20Maria%20Bet%c3%a2nia.pdf523fb4617fca70b4620e3f4e60433efcMD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/5826/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXTPereira, Maria Betânia.pdf.txtPereira, Maria Betânia.pdf.txtExtracted texttext/plain12153https://repositorio.ufba.br/bitstream/ri/5826/3/Pereira%2c%20Maria%20Bet%c3%a2nia.pdf.txtc70c86d4e179e8b2e2e45f48beb355f2MD53ri/58262022-07-05 14:03:20.842oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:20Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
dc.title.alternative.pt_BR.fl_str_mv Arq Neuropsiquiatr
title Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
spellingShingle Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
Pereira, Maria Betânia
Mental deficiency
Inborn errors of metabolism
Metabolic disorders
Amino acid disorders
Lysosomal disorders
title_short Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
title_full Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
title_fullStr Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
title_full_unstemmed Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
title_sort Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
author Pereira, Maria Betânia
author_facet Pereira, Maria Betânia
Conceição, Gildásio Carvalho da
Coelho, Janice C.
Wajner, Moacir
Giugliani, Roberto
author_role author
author2 Conceição, Gildásio Carvalho da
Coelho, Janice C.
Wajner, Moacir
Giugliani, Roberto
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Pereira, Maria Betânia
Conceição, Gildásio Carvalho da
Coelho, Janice C.
Wajner, Moacir
Giugliani, Roberto
Pereira, Maria Betânia
Conceição, Gildásio Carvalho da
Coelho, Janice C.
Wajner, Moacir
Giugliani, Roberto
dc.subject.por.fl_str_mv Mental deficiency
Inborn errors of metabolism
Metabolic disorders
Amino acid disorders
Lysosomal disorders
topic Mental deficiency
Inborn errors of metabolism
Metabolic disorders
Amino acid disorders
Lysosomal disorders
description p.209-212
publishDate 1997
dc.date.issued.fl_str_mv 1997
dc.date.accessioned.fl_str_mv 2012-05-10T19:31:24Z
dc.date.available.fl_str_mv 2012-05-10T19:31:24Z
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 http://www.repositorio.ufba.br/ri/handle/ri/5826
dc.identifier.issn.none.fl_str_mv 0004-282X
dc.identifier.number.pt_BR.fl_str_mv v. 55, n. 2
identifier_str_mv 0004-282X
v. 55, n. 2
url http://www.repositorio.ufba.br/ri/handle/ri/5826
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Associação Arquivos de Neuro-Psiquiatria Dr. Oswaldo Lange
publisher.none.fl_str_mv Associação Arquivos de Neuro-Psiquiatria Dr. Oswaldo Lange
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1590/S0004-282X1997000200007
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
instname:Universidade Federal da Bahia (UFBA)
instacron:UFBA
instname_str Universidade Federal da Bahia (UFBA)
instacron_str UFBA
institution UFBA
reponame_str Repositório Institucional da UFBA
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