AAMS Pediatrics · Vol. 7 · Issue 3 · 2026-03-01
Genetic Screening for Inborn Errors of Metabolism: Implementation of Expanded Newborn Screening Panel
Karimov DS, Andersen L, Mwangi J
Tashkent Pediatric Medical Institute, Tashkent, Uzbekistan; Rigshospitalet, Copenhagen, Denmark; Kenyatta National Hospital, Nairobi, Kenya
Abstract
This prospective multicenter study evaluated the clinical utility and cost-effectiveness of an expanded newborn screening panel for 56 inborn errors of metabolism in a cohort of 150,000 newborns.
Keywords: newborn screening, inborn errors of metabolism, genetic screening, tandem mass spectrometry
Full Text
This prospective multicenter study evaluated the clinical utility and cost-effectiveness of an expanded newborn screening panel for 56 inborn errors of metabolism in a cohort of 150,000 newborns.
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