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Penetrance is a critical parameter for assessing the disease liability of CFTR variants

Archive ouverte | Boussaroque, A. | CCSD

International audience. Background: Major issues of newborn screening (NBS) for CF are the assessment of disease liability of variants and of the penetrance of clinical CF, notably in inconclusive diagnosis. The pen...

Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis

Archive ouverte | Sermet-Gaudelus, I. | CCSD

International audience. BACKGROUND:A challenging problem arising from cystic fibrosis (CF) newborn screening is the significant number of infants with hypertrypsinaemia (HIRT) with sweat chloride levels in the inter...

P286 Triple CFTR modulator combination improves glucose tolerance in adolescents with cystic fibrosis. Data from the French observational paediatric study MODUL-CF

Archive ouverte | Weiss, L. | CCSD

International audience. Highly effective CFTR Modulators herald a new era in therapeutic strategyof Cystic fibrosis. Exacaftor/tezacaftor/ivacaftor (ETI) has shown to improve lung function, decrease number of pulmon...

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