Résultats de la recherche - 4 results
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
in CF-disease liability is hardly documented. METHODS: Belgian CF-Registry 2013 data were analyzed to identify CF with at least 1 RM (CF + RM). Clinical data and sweat chloride of CF + RM were compared ...
Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.
Cuppens, Harry; Amaral, Margarida; De Boeck, Kris Source: J Cyst Fibros, Volume 16, Issue 4, p.488-491 (2017) Abstract: BACKGROUND: The diagnosis of Cystic Fibrosis (CF) is by consensus based on the same ...
Treatment burden in patients with at least one class IV or V CFTR mutation
phenotype, but little is known about their relative treatment burden. We compared treatment burden between patients with two class I, II, or III mutations and patients with at least one mutation of class IV /V ...
Is there evidence for correct diagnosis in cystic fibrosis registries?
% homozygous for F508 del from 55.3 to 63.7 in NL and a decrease of % with sweat chloride ≤60mmol/L from 8.4 to 1.1 in B. CONCLUSION: CF diagnosis is not documented in 10 to 24% of patients included in CF ...