Publications by authors named "Ilja N van Hoek"
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Anke P Willems Maria van der Ham Birgit G M Schiebergen-Bronkhorst Mirjam van Aalderen Martina M J de Barse Ilja N van Hoek
Front Mol Biosci
November 2023
Article Synopsis
- Early diagnosis of inherited metabolic diseases (IMDs) is crucial for effective treatment and better patient outcomes, but the variety of these diseases complicates timely diagnosis.
- Untargeted metabolomics, using advanced techniques like direct infusion high-resolution mass spectrometry (DI-HRMS), shows promise for diagnosing IMDs but remains underused in clinical settings compared to traditional methods.
- A year-long study found that while targeted assays and untargeted metabolomics provided strong correlations for many metabolites, DI-HRMS identified additional metabolic disorders in some patients that targeted assays had missed, highlighting its potential for broader diagnostic applications.
The 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with increased risk of neurodevelopmental phenotypes including autism spectrum disorders (ASD) and intellectual impairment.
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