[HTML][HTML] Elexacaftor–tezacaftor–ivacaftor for cystic fibrosis with a single Phe508del allele

…, JL Taylor-Cousar, E Tullis, F Vermeulen… - … England Journal of …, 2019 - Mass Medical Soc
Background Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis
transmembrane conductance regulator (CFTR) protein, and nearly 90% of patients have at …

[HTML][HTML] Coronavirus disease 2019 in patients with inborn errors of immunity: an international study

…, R Badolato, A Soresina, F Vermeulen… - Journal of Allergy and …, 2021 - Elsevier
Background There is uncertainty about the impact of severe acute respiratory syndrome
coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a …

Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis

…, KD Boeck, GJ Casimir, F Vermeulen… - American journal of …, 2010 - atsjournals.org
Rationale: Nonsense (premature stop codon) mutations in mRNA for the cystic fibrosis
transmembrane conductance regulator (CFTR) cause cystic fibrosis (CF) in approximately 10% of …

New clinical diagnostic procedures for cystic fibrosis in Europe

…, HR de Jonge, I Bronsveld, I Sermet, F Vermeulen… - Journal of Cystic …, 2011 - Elsevier
In the majority of cases, there is no difficulty in diagnosing Cystic Fibrosis (CF). However,
there may be wide variation in signs and symptoms between individuals which encourage the …

[HTML][HTML] Comparison of two treatment regimens for eradication of Pseudomonas aeruginosa infection in children with cystic fibrosis

M Proesmans, F Vermeulen, L Boulanger… - Journal of Cystic …, 2013 - Elsevier
In patients with cystic fibrosis (CF), treatment of new Pseudomonas aeruginosa (Pa) infection
postpones the occurrence of chronic infection, but the best eradication regimen is unknown …

What's new in cystic fibrosis? From treating symptoms to correction of the basic defect

M Proesmans, F Vermeulen, K De Boeck - European journal of pediatrics, 2008 - Springer
Chronic relentless lung infection and pancreatic insufficiency are the cardinal features of
cystic fibrosis (CF), a life-shortening autosomal recessive disease. Mutations in the ’cystic …

CFTR biomarkers: time for promotion to surrogate end-point

…, E De Wachter, T Leal, F Vermeulen… - European …, 2013 - Eur Respiratory Soc
In patients with cystic fibrosis, cystic fibrosis transmembrane conductance regulator (CFTR)
biomarkers, such as sweat chloride concentration and/or nasal potential difference, are used …

[HTML][HTML] Non-invasive liver elastography (Fibroscan) for detection of cystic fibrosis-associated liver disease

…, L Dupont, M Proesmans, F Vermeulen… - Journal of Cystic …, 2009 - Elsevier
BACKGROUND: Cystic fibrosis-associated liver disease (CFLD) is the second cause of
mortality in CF. The prevalence is estimated to be 26–45%, but sensitive diagnostic tools are …

Lung clearance index predicts pulmonary exacerbations in young patients with cystic fibrosis

F Vermeulen, M Proesmans, M Boon, T Havermans… - Thorax, 2014 - thorax.bmj.com
Rationale The lung clearance index (LCI) is a promising endpoint for use in cystic fibrosis (CF)
clinical trials, but correlations with validated clinical endpoints have not yet been …

Mutations in the amiloride‐sensitive epithelial sodium channel in patients with cystic fibrosis‐like disease

AK Azad, R Rauh, F Vermeulen, M Jaspers… - Human …, 2009 - Wiley Online Library
We investigated whether mutations in the genes that code for the different subunits of the
amiloride‐sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)‐like …