Please use this identifier to cite or link to this item: http://hdl.handle.net/10316/100537
Title: Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Authors: Roda, Juliana 
Teixeira, Teresa 
Silva, Iris Al
Silva, Teresa Rei 
Ferreira, Ricardo
Amaral, Margarida D.
Oliveira, Guiomar 
Keywords: Mutations; Clinical manifestations; Ivacaftor; Tezacaftor; Lumacaftor; Elexacaftor
Issue Date: 2022
Serial title, monograph or event: Jornal de Pediatria
Volume: 98
Issue: 2
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.
URI: http://hdl.handle.net/10316/100537
ISSN: 00217557
DOI: 10.1016/j.jped.2021.05.010
Rights: openAccess
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais

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