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Article

Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.

Scientific reports - 10 Jun 2020

Almontashiri Naif A M, Zha Li, Young Kim, Law Terence, Kellogg Mark D, Bodamer Olaf A, Peake Roy W A

Abstract excerpt

Global untargeted metabolomics (GUM) has entered clinical diagnostics for genetic disorders. We compared the clinical utility of GUM with traditional targeted metabolomics (TM) as a screening tool in patients with established genetic disorders and determined the scope of GUM as a discovery tool in patients with no diagnosis under investigation. We compared TM and GUM data in 226 patients. The first cohort...

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Identifiers

PMID: 32523032
DOI: 10.1038/s41598-020-66401-2
PMCID: PMC7287104

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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