Article
Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations.
European journal of pediatrics - 1 Apr 2002
Padoan Rita, Bassotti Alessandra, Seia Manuela, Corbetta Carlo
Abstract excerpt
UNLABELLED: Persistent hypertrypsinaemia in newborn screening for cystic fibrosis (CF) recognises subjects at high risk to be affected. Diagnosis is confirmed by a positive sweat test and/or by the presence of two mutations in the cystic fibrosis transmembrane regulator gene. The aim of the present study was to evaluate the occurrence of a negative sweat test (chloride < 60 mmol/l) during the first months of...
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