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Sweat chloride
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publication
Forty years experience with sweat chloride testing in the Prague CF Centre
2002 |
Ústřední knihovna, 2. lékařská fakulta
publication
Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis
2009 |
Publikace bez příslušnosti k fakultě
publication
A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis
1998 |
Ústřední knihovna
publication
Failure to Thrive with Elevated Sweat Chloride Concentration:Susp. Cystic fibrosis X Nephrogen.Diab.Insip.
Publikace bez příslušnosti k fakultě
publication
Human epididymis protein 4 (HE4) levels inversely correlate with lung function improvement (delta FEV1) in cystic fibrosis patients receiving ivacaftor treatment
2019 |
2. lékařská fakulta
publication
Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination
2023 |
2. lékařská fakulta
publication
Elexacaftor-tezacaftor-ivacaftor in patients with cystic fibrosis ineligible for clinical trials: a 24-week observational study
2023 |
2. lékařská fakulta
publication
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis
1996 |
Ústřední knihovna
publication
GLPG1837, a CFTR potentiator, in p.Gly551Asp (G551D)-CF patients: An open-label, single-arm, phase 2a study (SAPHIRA1)
2019 |
2. lékařská fakulta
publication
European best practice guidelines for cystic fibrosis neonatal screening
2009 |
2. lékařská fakulta
publication
Současný stav diagnostiky cystické fibrózy
1999 |
2. lékařská fakulta
publication
CFTR activity is enhanced by the novel corrector GLPG2222, given with and without ivacaftor in two randomized trials
2019 |
2. lékařská fakulta
publication
Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport
2010 |
2. lékařská fakulta
publication
Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis
2021 |
2. lékařská fakulta
publication
Proper Interpretation of Elastase-1 Concentration in Stool: Experience of the Prague CF Centre
2002 |
2. lékařská fakulta
publication
Diagnostika cystické fibrózy u dospělých
2016 |
2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, Lékařská fakulta v Plzni, Lékařská fakulta v Hradci Králové
publication
Correction of CFTR function in intestinal organoids to guide treatment of Cystic Fibrosis
2021 |
2. lékařská fakulta
publication
Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. Online
1998 |
2. lékařská fakulta
publication
Cystická fibróza dospělých
+1
2014 |
2. lékařská fakulta
publication
Cystická fibróza u dospělých
+1
2014 |
2. lékařská fakulta
publication
Současné možnosti diagnostiky infekcí horních cest dýchacích u dětí z pohledu otorinolaryngologa
2012 |
2. lékařská fakulta
publication
Vanishing Lung Syndrome in a Cystic Fibrosis Patient
2017 |
2. lékařská fakulta
publication
Laboratory biomarkers for lung disease severity and progression in cystic fibrosis
2020 |
2. lékařská fakulta
publication
Assessment of Distinct Electrophysiological Parameters in Rectal Biopsies for the Choice of the Best Diagnosis/Prognosis Biomarkers for Cystic Fibrosis
2020 |
2. lékařská fakulta
publication
Cystic fibrosis patients bearing both the common missense mutation GlyRIGHTWARDS ARROWAsp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus
1992 |
2. lékařská fakulta
publication
Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis
2022 |
2. lékařská fakulta
publication
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry
2021 |
2. lékařská fakulta
publication
Pankreaticky suficientní forma cystické fibrózy
2007 |
2. lékařská fakulta