Author
Radboud University Medical CenterORCID 0000-0002-0980-238XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Imke M. E. Schuurmans, Udo F. H. Engelke, Muna Abedrabbo…·Alejandro Garanto
This study shows that targeting AASS in astrocytes reduces neurotoxicity and improves mitochondrial function in a model of pyridoxine-dependent epilepsy.
Casper de Visser, Anna Niehues, Lukáš Najdekr…·Peter A.C. ’t Hoen
The paper presents a comprehensive multi-omics dataset of healthy individuals, revealing sex and age influences and providing reference ranges for omics features.
Udo F. H. Engelke, Rianne E. van Outersterp, Jona Merx…·Karlien L. M. Coene
The paper identifies novel biomarkers for pyridoxine-dependent epilepsy using metabolomics and infrared ion spectroscopy, showing their potential for newborn screening and clinical implications.
Flóra Szeri, Stefan Lundkvist, Sylvia Donnelly…·Koen van de Wetering
This study identifies ANKH's role in extracellular citrate and pyrophosphate homeostasis and its impact on bone mechanical properties.
Emma J. Graham Linck, Phillip A. Richmond, Maja Tarailo‐Graovac…·Sara Mostafavi
metPropagate uses metabolomics data to prioritize candidate genes for neurometabolic diseases, achieving high accuracy in identifying causative genes for both known and novel IEMs.