Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/100537
DC FieldValueLanguage
dc.contributor.authorRoda, Juliana-
dc.contributor.authorTeixeira, Teresa-
dc.contributor.authorSilva, Iris Al-
dc.contributor.authorSilva, Teresa Rei-
dc.contributor.authorFerreira, Ricardo-
dc.contributor.authorAmaral, Margarida D.-
dc.contributor.authorOliveira, Guiomar-
dc.date.accessioned2022-06-30T08:19:08Z-
dc.date.available2022-06-30T08:19:08Z-
dc.date.issued2022-
dc.identifier.issn00217557pt
dc.identifier.urihttps://hdl.handle.net/10316/100537-
dc.description.abstractCystic 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.isoengpt
dc.rightsopenAccesspt
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt
dc.subjectMutationspt
dc.subjectClinical manifestationspt
dc.subjectIvacaftorpt
dc.subjectTezacaftorpt
dc.subjectLumacaftorpt
dc.subjectElexacaftorpt
dc.subject.meshChildpt
dc.subject.meshHumanspt
dc.subject.meshMalept
dc.subject.meshMutationpt
dc.subject.meshPortugalpt
dc.subject.meshCystic Fibrosispt
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulatorpt
dc.titlePediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapiespt
dc.typearticle-
degois.publication.firstPage212pt
degois.publication.lastPage217pt
degois.publication.issue2pt
degois.publication.titleJornal de Pediatriapt
dc.peerreviewedyespt
dc.identifier.doi10.1016/j.jped.2021.05.010pt
degois.publication.volume98pt
dc.date.embargo2022-01-01*
uc.date.periodoEmbargo0pt
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypearticle-
item.cerifentitytypePublications-
item.grantfulltextopen-
item.fulltextCom Texto completo-
item.languageiso639-1en-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.orcid0000-0002-9420-9942-
crisitem.author.orcid0000-0003-4031-3880-
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais
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