International Journal of Neonatal Screening, Volume 8, Issue 1
2022 March - 22 articles
Cover Story: In the wake of the addition of mucopolysaccharidosis type II (MPS-II) to the recommended uniform screening panel (RUSP) for state newborn screening (NBS) programs, this study compares two highly relevant methods for measuring glycosaminoglycan (GAG) biomarkers of MPS-II. Data from rare MPS-II newborn DBS are reported. This study also reports GAG biomarker levels in newborn DBS identified as false positives in the first-tier enzyme assay by Illinois State NBS laboratories. In the last four years, global population screenings have suggested that the inclusion of a second-tier GAG biomarker method for MPS-II would dramatically decrease false positives from the first-tier enzyme assay. The data from these false positives further support the value of second-tier biomarker screening. View this paper
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Int. J. Neonatal Screen. - ISSN 2409-515X