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

Objectives: 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 pediatr...

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Bibliographic Details
Main Authors: Juliana Roda, Teresa Teixeira, Iris AI Silva, Teresa Reis Silva, Ricardo Ferreira, Margarida D. Amaral, Guiomar Oliveira
Format: Article
Language:English
Published: Elsevier 2022-03-01
Series:Jornal de Pediatria
Subjects:
Mutations
Clinical manifestations
Ivacaftor
Tezacaftor
Lumacaftor
Elexacaftor
Online Access:http://www.sciencedirect.com/science/article/pii/S0021755721000942

Internet

http://www.sciencedirect.com/science/article/pii/S0021755721000942

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