Résultats de la recherche - 4 results

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Abstract: BACKGROUND: CFTR2 provides clinical and functional information of the most common CFTR-mutations. Rare mutations (RM s) occur in only a few patients with limited reported clinical data. Their role ...

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.

analysis of the CFTR2 and UK CF databases for clinical phenotype, sweat chloride values and CFTR mutations and compared the diagnostic characteristics of Asian to non-Asian patients with CF. RESULTS: Asian ...

Treatment burden in patients with at least one class IV or V CFTR mutation

Conductance Regulator Drug Utilization Female Genotype Hospitalization Humans Infant Infant, Newborn Male Mutation Organ Transplantation REGISTRIES Respiratory Therapy Retrospective Studies Severity of Illness ...

Is there evidence for correct diagnosis in cystic fibrosis registries?

predefined diagnostic criteria. RESULTS: Using as case definition sweat chloride >60mmol/L or 2 CFTR mutations identified, CF diagnosis was not documented in 2.8, 5.7, 6.5 and 21.6% of subjects in the F, B, ...

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