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Zoekresultaten - 4 results

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

RESULTS: Seventy-seven CF + RM were identified (77/1183 = 6.5%). Sixty-four different RM were detected, of which 21 had not been previously reported. All RM s, corresponding to HGVS (Human Genome Variation ...

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

controls) and 14% have sweat chloride values below 60mmol/L (versus 6% in non-Asians). Also, CFTR mutations differ from those in Caucasians: 55% of British Asian patients with CF do not have one mutation ...

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

a lower median TBI (6 vs. 9; P < 0.001). These differences remained significant when only class IV /V patients with pancreatic insufficiency (n = 31) were considered. This study clearly demonstrates the ...

Is there evidence for correct diagnosis in cystic fibrosis registries?

outcomes. The impact differed between countries; the largest changes seen were a decrease in % adults from 51.9 to 47.8% in G, a decrease in % pancreas sufficiency from 17.0 to 13.0 in F, an increase in ...

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