Publications by authors named "D J Lefeber"

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Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.
Jonathan Martens, Udo F H Engelke, Ron A Wevers, Dirk J Lefeber, Purva Kulkarni

J Inherit Metab Dis· January 2026

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Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.
Imke M E Schuurmans, Udo Engelke, Muna Abedrabbo, Sofía Puvogel, Rachel Mijdam, Dirk J Lefeber

Mol Ther Nucleic Acids· December 2025

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Cross-modal integration of metabolomics and cardiac functionality captures dynamic metabotoxic effects of doxorubicin in engineered heart tissues.
Federica Conte, Doroteya K Staykova, Carla Cofiño-Fabres, Danique Snippert, Arno van Rooij, Dirk J Lefeber

Stem Cell Reports· December 2025

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New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.
Clara D M van Karnebeek, Valérie Gailus-Durner, Udo F Engelke, Claudia Seisenberger, Susan Marschall, Dirk J Lefeber

Brain Commun· November 2025

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Investigating the utilization mechanism and kinetics of sialic acid mimetics in mammalian cell lines.
Eline A Visser, Daniël L A H Hornikx, Moritz Rahm, Özden Öztürk, Venetia Psomiadou, Dirk J Lefeber

RSC Chem Biol· October 2025

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