Patients with cystic fibrosis having a residual function mutation: Data from the Italian registry-Reference-Cited by-同舟云学术

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Patients with cystic fibrosis having a residual function mutation: Data from the Italian registry

Published:2018-12-18 Issue:2 Volume:54 Page:150-157
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatr Pulmonol

Author:

Salvatore Donatello¹^ORCID,Padoan Rita²^ORCID,Buzzetti Roberto³,Amato Annalisa⁴,Giordani Barbara⁴⁵,Ferrari Gianluca⁴,Majo Fabio⁴⁶

Affiliation:

1. Cystic Fibrosis Center; Hospital San Carlo; Potenza Italy

2. Cystic Fibrosis Unit; ASST Spedali Civili; Brescia Italy

3. Pediatrician; Epidemiologist; Bergamo Italy

4. Italian Cystic Fibrosis Registry; Rome Italy

5. Italian Cystic Fibrosis League; Rome Italy

6. Cystic Fibrosis Center; Bambino Gesù Children's Hospital, IRCCS; Rome Italy

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ppul.24215/fullpdf

Reference23 articles.

1. Cystic fibrosis;Elborn;Lancet,2016

2. Cystic fibrosis;O'Sullivan;Lancet,2009

3. From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations;Veit;Mol Biol Cell,2016

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Nutritional Trends in Cystic Fibrosis: Insights from the Italian Cystic Fibrosis Patient Registry;Journal of Clinical Medicine;2024-06-22

2. Frequencies of pathogenic CFTR variants in Greek cystic fibrosis patients with allergic bronchopulmonary aspergillosis and Aspergillus fumigatus chronic colonization: A retrospective cohort study;Journal of Medical Mycology;2023-03

3. Long-term tezacaftor/ivacaftor safety and efficacy in people with cystic fibrosis and an F508del-CFTR mutation: 96-week, open-label extension of the EXTEND trial;Journal of Cystic Fibrosis;2022-12

4. A Phase 3, open-label, 96-week trial to study the safety, tolerability, and efficacy of tezacaftor/ivacaftor in children ≥ 6 years of age homozygous for F508del or heterozygous for F508del and a residual function CFTR variant;Journal of Cystic Fibrosis;2022-07

5. Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry;Orphanet Journal of Rare Diseases;2022-06-13

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