Non‐pulmonary <scp>CFTR</scp> ‐related symptom improvement with ivacaftor in p.Phe508del/p. <scp>Arg117His</scp> ( <scp>7T</scp> ) cystic fibrosis-Reference-Cited by-同舟云学术

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Non‐pulmonary CFTR ‐related symptom improvement with ivacaftor in p.Phe508del/p. Arg117His ( 7T ) cystic fibrosis

Published:2022-12-21 Issue:1 Volume:11 Page:
ISSN:2051-3380
Container-title:Respirology Case Reports
language:en
Short-container-title:Respirology Case Reports

Author:

Kuek Stephanie L.¹^ORCID,Massie R. John H.¹²³⁴^ORCID

Affiliation:

1. Department of Respiratory Medicine Royal Children's Hospital Parkville Victoria Australia

2. Murdoch Children's Research Institute Parkville Victoria Australia

3. Department of Paediatrics University of Melbourne Parkville Victoria Australia

4. Children's Bioethics Centre Royal Children's Hospital Parkville Victoria Australia

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/rcr2.1079

Reference8 articles.

1. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

2. Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C

3. Review of CFTR modulators 2020

4. Genetic counselling after carrier detection by newborn screening when one parent carries F508 and the other R117H

5. Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial

Cited by 2 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. Germline multigene panel testing in acute and chronic pancreatitis;PLOS ONE;2024-08-22

2. Should all children with cystic fibrosis who have responsive CFTR mutations be prescribed CFTR modulators?;Journal of Cystic Fibrosis;2023-12

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