AAMS Laboratory Medicine & Diagnostics · Vol. 1 · Issue 4 · 2024-12-10

Mass Spectrometry-Based Metabolomics for Inborn Errors of Metabolism Screening

Harrison EC, Clarke JD
Great Ormond Street Hospital, London, United Kingdom¹; UCL Great Ormond Street Institute of Child Health, London, United Kingdom²
DOI: 10.7759/aams.2024.0081
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Abstract

Implementation of a targeted metabolomics platform using LC-MS/MS for expanded newborn screening, detecting 58 metabolic disorders with a false-positive rate below 0.01% in 120,000 neonatal dried blood spots.

Keywords: Metabolomics, Mass Spectrometry, Newborn Screening, Inborn Errors of Metabolism, LC-MS/MS

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