Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests - Concepedia

Concepedia

Publication | Open Access

Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests

DOI Full Paper Access

12

Citations

19

References

2022

Year

Elise A. Ferreira, Annemarijne R.J. Veenvliet, Udo F. H. Engelke, Leo A. J. Kluijtmans, Marleen C.D.G. Huigen, Brechtje Hoegen, Lonneke de Boer, Maaike C. de Vries, Bregje W.M. van Bon, Erika Leenders,

Genetics in Medicine

Abstract

Metabolomics-based gene function tests provide additional value in the diagnostic trajectory of patients with suspected IMD by enhancing and accelerating diagnostic success.

References

	Year	Citations

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