Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies

Detalhes bibliográficos
Autor(a) principal: Roda, Juliana
Data de Publicação: 2022
Outros Autores: Teixeira, Teresa, Silva, Iris Al, Silva, Teresa Rei, Ferreira, Ricardo, Amaral, Margarida D., Oliveira, Guiomar
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
DOI: 10.1016/j.jped.2021.05.010
Texto Completo: http://hdl.handle.net/10316/100537
https://doi.org/10.1016/j.jped.2021.05.010
Resumo: Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the clinical and genetic features of a cohort of pediatric people with CF (PwCF) in the center of Portugal and to determine which ones are candidates for the new drugs modulating the CFTR channel.
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spelling Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapiesMutationsClinical manifestationsIvacaftorTezacaftorLumacaftorElexacaftorChildHumansMaleMutationPortugalCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorCystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the clinical and genetic features of a cohort of pediatric people with CF (PwCF) in the center of Portugal and to determine which ones are candidates for the new drugs modulating the CFTR channel.2022info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/100537http://hdl.handle.net/10316/100537https://doi.org/10.1016/j.jped.2021.05.010eng00217557Roda, JulianaTeixeira, TeresaSilva, Iris AlSilva, Teresa ReiFerreira, RicardoAmaral, Margarida D.Oliveira, Guiomarinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-06-30T20:31:29Zoai:estudogeral.uc.pt:10316/100537Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:17:54.328207Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
title Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
spellingShingle Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Roda, Juliana
Mutations
Clinical manifestations
Ivacaftor
Tezacaftor
Lumacaftor
Elexacaftor
Child
Humans
Male
Mutation
Portugal
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Roda, Juliana
Mutations
Clinical manifestations
Ivacaftor
Tezacaftor
Lumacaftor
Elexacaftor
Child
Humans
Male
Mutation
Portugal
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
title_short Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
title_full Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
title_fullStr Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
title_full_unstemmed Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
title_sort Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
author Roda, Juliana
author_facet Roda, Juliana
Roda, Juliana
Teixeira, Teresa
Silva, Iris Al
Silva, Teresa Rei
Ferreira, Ricardo
Amaral, Margarida D.
Oliveira, Guiomar
Teixeira, Teresa
Silva, Iris Al
Silva, Teresa Rei
Ferreira, Ricardo
Amaral, Margarida D.
Oliveira, Guiomar
author_role author
author2 Teixeira, Teresa
Silva, Iris Al
Silva, Teresa Rei
Ferreira, Ricardo
Amaral, Margarida D.
Oliveira, Guiomar
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Roda, Juliana
Teixeira, Teresa
Silva, Iris Al
Silva, Teresa Rei
Ferreira, Ricardo
Amaral, Margarida D.
Oliveira, Guiomar
dc.subject.por.fl_str_mv Mutations
Clinical manifestations
Ivacaftor
Tezacaftor
Lumacaftor
Elexacaftor
Child
Humans
Male
Mutation
Portugal
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
topic Mutations
Clinical manifestations
Ivacaftor
Tezacaftor
Lumacaftor
Elexacaftor
Child
Humans
Male
Mutation
Portugal
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
description Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the clinical and genetic features of a cohort of pediatric people with CF (PwCF) in the center of Portugal and to determine which ones are candidates for the new drugs modulating the CFTR channel.
publishDate 2022
dc.date.none.fl_str_mv 2022
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://hdl.handle.net/10316/100537
http://hdl.handle.net/10316/100537
https://doi.org/10.1016/j.jped.2021.05.010
url http://hdl.handle.net/10316/100537
https://doi.org/10.1016/j.jped.2021.05.010
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 00217557
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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dc.identifier.doi.none.fl_str_mv 10.1016/j.jped.2021.05.010

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