Please use this identifier to cite or link to this item:
https://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: | https://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 |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
1-s2.0-S0021755721000942-main.pdf | 423.74 kB | Adobe PDF | View/Open |
Page view(s)
127
checked on Oct 15, 2024
Download(s)
59
checked on Oct 15, 2024
Google ScholarTM
Check
Altmetric
Altmetric
This item is licensed under a Creative Commons License