Newborn screening for primary carnitine deficiency using a second-tier genetic test
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DOI: 10.1515/jpem-2023-0513
Abstract: Abstract Objectives Newborn screening (NBS) for primary carnitine deficiency (PCD) exhibits suboptimal performance. This study proposes a strategy to enhance the efficacy of second-tier genetic screening by adjusting the cutoff value for free carnitine (C0).… read more here.
Keywords: newborn screening; genetic screening; second tier; tier genetic ... See more keywords