Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline

Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline

Inborn errors of metabolism (IEM) are inherited conditions caused by genetic defects in enzymes or cofactors. These defects result in a specific metabolic fingerprint in patient body fluids, showing accumulation of substrate or lack of an end-product of the defective enzymatic step. Untargeted metab...

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Bibliographic Details
Main Authors: Brechtje Hoegen, Alan Zammit, Albert Gerritsen, Udo F. H. Engelke, Steven Castelein, Maartje van de Vorst, Leo A. J. Kluijtmans, Marleen C. D. G. Huigen, Ron A. Wevers, Alain J. van Gool, Christian Gilissen, Karlien L. M. Coene, Purva Kulkarni
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Metabolites
Subjects:
untargeted metabolomics
next-generation metabolic screening
inherited metabolic diseases
data analysis
mass spectrometry
bioinformatics pipeline
Online Access:https://www.mdpi.com/2218-1989/11/9/568

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https://www.mdpi.com/2218-1989/11/9/568

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