Normalization of Sweat Chloride Concentration and Clinical Improvement With Ivacaftor in a Patient With Cystic Fibrosis With Mutation S549N
Author:
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine,Critical Care and Intensive Care Medicine,Pulmonary and Respiratory Medicine
Reference8 articles.
1. Ivacaftor potentiation of multiple CFTR channels with gating mutations;Yu;J Cyst Fibros,2012
2. Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients;Reboul;J Med Genet,2002
3. Cystic fibrosis: a disease of vulnerability to airway surface dehydration;Boucher;Trends Mol Med,2007
4. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation;Ramsey;N Engl J Med,2011
5. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation;Accurso;N Engl J Med,2010
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1. Left Behind: The Potential Impact of CFTR Modulators on Racial and Ethnic Disparities in Cystic Fibrosis;Paediatric Respiratory Reviews;2021-12
2. Cystic fibrosis patients of minority race and ethnicity less likely eligible for CFTR modulators based on CFTR genotype;Pediatric Pulmonology;2021-02
3. Effect of apical chloride concentration on the measurement of responses to CFTR modulation in airway epithelia cultured from nasal brushings;Physiological Reports;2020-10
4. Effectivenesss of ivacaftor in severe cystic fibrosis patients and non‐G551D gating mutations;Pediatric Pulmonology;2019-06-25
5. Sweat rate analysis of ivacaftor potentiation of CFTR in non-CF adults;Scientific Reports;2018-11-02
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