Utilize este identificador para referenciar este registo:
https://hdl.handle.net/10316/100537
Campo DC | Valor | Idioma |
---|---|---|
dc.contributor.author | Roda, Juliana | - |
dc.contributor.author | Teixeira, Teresa | - |
dc.contributor.author | Silva, Iris Al | - |
dc.contributor.author | Silva, Teresa Rei | - |
dc.contributor.author | Ferreira, Ricardo | - |
dc.contributor.author | Amaral, Margarida D. | - |
dc.contributor.author | Oliveira, Guiomar | - |
dc.date.accessioned | 2022-06-30T08:19:08Z | - |
dc.date.available | 2022-06-30T08:19:08Z | - |
dc.date.issued | 2022 | - |
dc.identifier.issn | 00217557 | pt |
dc.identifier.uri | https://hdl.handle.net/10316/100537 | - |
dc.description.abstract | 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. | pt |
dc.language.iso | eng | pt |
dc.rights | openAccess | pt |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | pt |
dc.subject | Mutations | pt |
dc.subject | Clinical manifestations | pt |
dc.subject | Ivacaftor | pt |
dc.subject | Tezacaftor | pt |
dc.subject | Lumacaftor | pt |
dc.subject | Elexacaftor | pt |
dc.subject.mesh | Child | pt |
dc.subject.mesh | Humans | pt |
dc.subject.mesh | Male | pt |
dc.subject.mesh | Mutation | pt |
dc.subject.mesh | Portugal | pt |
dc.subject.mesh | Cystic Fibrosis | pt |
dc.subject.mesh | Cystic Fibrosis Transmembrane Conductance Regulator | pt |
dc.title | Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies | pt |
dc.type | article | - |
degois.publication.firstPage | 212 | pt |
degois.publication.lastPage | 217 | pt |
degois.publication.issue | 2 | pt |
degois.publication.title | Jornal de Pediatria | pt |
dc.peerreviewed | yes | pt |
dc.identifier.doi | 10.1016/j.jped.2021.05.010 | pt |
degois.publication.volume | 98 | pt |
dc.date.embargo | 2022-01-01 | * |
uc.date.periodoEmbargo | 0 | pt |
item.fulltext | Com Texto completo | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.languageiso639-1 | en | - |
item.openairetype | article | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | open | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.orcid | 0000-0002-9420-9942 | - |
crisitem.author.orcid | 0000-0003-4031-3880 | - |
Aparece nas coleções: | FMUC Medicina - Artigos em Revistas Internacionais |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
---|---|---|---|---|
1-s2.0-S0021755721000942-main.pdf | 423.74 kB | Adobe PDF | Ver/Abrir |
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