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
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
Full Text
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.
This article is published open access by AAMS Laboratory Medicine & Diagnostics. The complete peer-reviewed text can be read on the journal page.
Author Citation Metrics
- Harrison EC — Citations: 30 · h-index: 2 · i10-index: 2
- Clarke JD — Citations: 30 · h-index: 1 · i10-index: 1
Metrics are sourced from public bibliometric records (OpenAlex) and each author's Google Scholar profile.