Treatment strategies for inborn erros of metabolism

Detalhes bibliográficos
Autor(a) principal: F. M. Souza, Carolina
Data de Publicação: 2022
Outros Autores: R. Cecchin, Claudia, H. B. Maegawa, Gustavo, I. Zandoná, Denise, F. Pires, Ricardo
Tipo de documento: Artigo
Idioma: por
Título da fonte: Clinical and Biomedical Research
Texto Completo: https://seer.ufrgs.br/index.php/hcpa/article/view/126047
Resumo: Recent advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have improved substantially the prognosis for many of these conditions. In the clinical practice it is important to recognize this pathology mainly in an acute situation, when the early intervention is essential. In this article, we presented some therapeutic strategies for IEM that should be used to improve their prognose.
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spelling Treatment strategies for inborn erros of metabolismEstratégias de tratamento para os erros inatos do metabolismoTratamentodoença genéticaenzimaserros inatos do metabolismoTreatmentgenetic diseasesinborn errors of metabolismenzymesRecent advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have improved substantially the prognosis for many of these conditions. In the clinical practice it is important to recognize this pathology mainly in an acute situation, when the early intervention is essential. In this article, we presented some therapeutic strategies for IEM that should be used to improve their prognose.Recentes avanços no diagnóstico e tratamento dos erros inatos do metabolismo têm melhorado substancialmente o prognóstico de muitos pacientes com estas condições. Na pratica médica é importante o diagnóstico precoce destas patologias, especialmente em um paciente agudamente enfermo, para que um tratamento adequado e rápido seja instituído. Neste artigo, apresentamos várias estratégias terapêuticas para alguns erros inatos do metabolismo, que devem ser utilizadas no sentido de melhorar o seu prognóstico.HCPA/FAMED/UFRGS2022-07-22info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionPeer-reviewed Article"A Convite dos Editoresapplication/pdfhttps://seer.ufrgs.br/index.php/hcpa/article/view/126047Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPAClinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA2357-9730reponame:Clinical and Biomedical Researchinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSporhttps://seer.ufrgs.br/index.php/hcpa/article/view/126047/85606http://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessF. M. Souza, Carolina R. Cecchin, Claudia H. B. Maegawa, Gustavo I. Zandoná, Denise F. Pires, Ricardo 2022-07-22T13:58:13Zoai:seer.ufrgs.br:article/126047Revistahttps://www.seer.ufrgs.br/index.php/hcpaPUBhttps://seer.ufrgs.br/index.php/hcpa/oai||cbr@hcpa.edu.br2357-97302357-9730opendoar:2022-07-22T13:58:13Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.none.fl_str_mv Treatment strategies for inborn erros of metabolism
Estratégias de tratamento para os erros inatos do metabolismo
title Treatment strategies for inborn erros of metabolism
spellingShingle Treatment strategies for inborn erros of metabolism
F. M. Souza, Carolina
Tratamento
doença genética
enzimas
erros inatos do metabolismo
Treatment
genetic diseases
inborn errors of metabolism
enzymes
title_short Treatment strategies for inborn erros of metabolism
title_full Treatment strategies for inborn erros of metabolism
title_fullStr Treatment strategies for inborn erros of metabolism
title_full_unstemmed Treatment strategies for inborn erros of metabolism
title_sort Treatment strategies for inborn erros of metabolism
author F. M. Souza, Carolina
author_facet F. M. Souza, Carolina
R. Cecchin, Claudia
H. B. Maegawa, Gustavo
I. Zandoná, Denise
F. Pires, Ricardo
author_role author
author2 R. Cecchin, Claudia
H. B. Maegawa, Gustavo
I. Zandoná, Denise
F. Pires, Ricardo
author2_role author
author
author
author
dc.contributor.author.fl_str_mv F. M. Souza, Carolina
R. Cecchin, Claudia
H. B. Maegawa, Gustavo
I. Zandoná, Denise
F. Pires, Ricardo
dc.subject.por.fl_str_mv Tratamento
doença genética
enzimas
erros inatos do metabolismo
Treatment
genetic diseases
inborn errors of metabolism
enzymes
topic Tratamento
doença genética
enzimas
erros inatos do metabolismo
Treatment
genetic diseases
inborn errors of metabolism
enzymes
description Recent advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have improved substantially the prognosis for many of these conditions. In the clinical practice it is important to recognize this pathology mainly in an acute situation, when the early intervention is essential. In this article, we presented some therapeutic strategies for IEM that should be used to improve their prognose.
publishDate 2022
dc.date.none.fl_str_mv 2022-07-22
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Peer-reviewed Article"
A Convite dos Editores
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://seer.ufrgs.br/index.php/hcpa/article/view/126047
url https://seer.ufrgs.br/index.php/hcpa/article/view/126047
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://seer.ufrgs.br/index.php/hcpa/article/view/126047/85606
dc.rights.driver.fl_str_mv http://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv HCPA/FAMED/UFRGS
publisher.none.fl_str_mv HCPA/FAMED/UFRGS
dc.source.none.fl_str_mv Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPA
Clinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA
2357-9730
reponame:Clinical and Biomedical Research
instname:Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
instname_str Universidade Federal do Rio Grande do Sul (UFRGS)
instacron_str UFRGS
institution UFRGS
reponame_str Clinical and Biomedical Research
collection Clinical and Biomedical Research
repository.name.fl_str_mv Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)
repository.mail.fl_str_mv ||cbr@hcpa.edu.br
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