A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

Background: Early diagnosis of inherited metabolic diseases (IMDs) is important because treatment may lead to reduced mortality and improved prognosis. Due to their diversity, it is a challenge to diagnose IMDs in time, effecting an emerging need for a comprehensive test to acquire an overview of me...

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Bibliographic Details
Main Authors: Anke P. Willems, Maria van der Ham, Birgit G. M. Schiebergen-Bronkhorst, Mirjam van Aalderen, Martina M. J. de Barse, Fini E. De Gruyter, Ilja N. van Hoek, Mia L. Pras-Raves, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif, Judith J. M. Jans
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Molecular Biosciences
Subjects:
untargeted metabolomics
inherited metabolic diseases
direct-infusion high resolution mass spectrometry
biomarker
diagnostics
genetic diseases
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2023.1283083/full

Internet

https://www.frontiersin.org/articles/10.3389/fmolb.2023.1283083/full

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