Understanding Inborn Errors of Metabolism through Metabolomics

Inborn errors of metabolism (IEMs) are rare diseases caused by a defect in a single enzyme, co-factor, or transport protein. For most IEMs, no effective treatment is available and the exact disease mechanism is unknown. The application of metabolomics and, more specifically, tracer metabolomics in I...

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Bibliographic Details
Main Authors: Karen Driesen, Peter Witters
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Metabolites
Subjects:
Online Access:https://www.mdpi.com/2218-1989/12/5/398