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Irene M. L. W. Korver-Keularts

Maastricht University

3

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69

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Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.

2021 Journal of Inherited Metabolic Disease
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Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

2017 American Journal of Human Genetics
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Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

2016 Orphanet Journal of Rare Diseases
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