Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening
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منابع مشابه
CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.
Neonates positive for immunoreactive trypsinogen assay (IRT) and negative for sweat test have formerly been found to carry the major cystic fibrosis (CF) mutation, delta F508, much more frequently than the general population. Among the 716 IRT positive newborns detected by a three tier (IRT, mutation analysis plus meconium lactase assay, sweat test) CF screening programme in north eastern Italy...
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Sweat testing in CF.
The European Diagnostic Working Group presented comprehensive diagnostic algorithms for cystic fibrosis (CF) and confirmed the fundamental role of the sweat test for the diagnosis of CF. However, several important differences between well-accepted guidelines for sweat testing 3 and the recommendations of the Working Group need to be discussed. An adequate sweat sampling volume depends on the sa...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2012
ISSN: 1569-1993
DOI: 10.1016/j.jcf.2011.11.010