Genetic Screening for Inborn Errors of Metabolism: Implementation of Expanded Newborn Screening Panel

Karimov DS; Andersen L; Mwangi J

doi:10.7759/aams.2026.1184

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

DOI: 10.7759/aams.2026.1184

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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

Abstract

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