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How to Obtain Reliable Visual Event-related Potentials in Newborns
Published on: October 24, 2019
Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn
J Lawrence Merritt1, Linnea L Brody2, Gisele Pino3
1Pediatrics, University of Washington, Seattle, WA, USA; Seattle Children's Research Institute, Seattle, WA, USA.
Abstract:
Current newborn screening (NBS) for urea cycle disorders (UCD) is incomplete as only distal UCDs are included in most NBS programs by measuring elevated amino acid concentrations. NBS for the proximal UCDs involves the detection in NBS spots of low citrulline values, a finding which is often overlooked because it is considered to be inadequate. We retrospectively analyzed NBS blood spots from known UCD patients comparing the utility of the Region 4 Stork (R4S) interpretive tools to conventional cutoff based interpretation. This study shows the utility of R4S tools in detecting all UCDs, and provides evidence to support the nomination to add proximal UCDs to the recommended uniform screening panel.
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