Dirk J Lefeber

12PUBLICATIONS
68CO-AUTHORS
Quality assurance, chemometrics, traceability and metrological chemistryElectrical energy generation (incl. renewables, excl. photovoltaics)GlycobiologyCellular nervous systemNeurology and neuromuscular diseases
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Publications (12)

|May 18, 2026
Cellular homeostasis of N-acetylneuraminic acid and non-canonical sialic acids is mediated by human N-acetylneuraminate lyase.

|Nov 12, 2025
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

|Apr 27, 2024
Mixed-phase weak anion-exchange/reversed-phase LC-MS/MS for analysis of nucleotide sugars in human fibroblasts.

Moritz Rahm, Hanneke Kwast, Hans J C T Wessels

|Aug 31, 2023
Sialic acid biosynthesis pathway blockade disturbs neuronal network formation in human iPSC-derived excitatory neurons.

Rachel Mijdam, Chantal Bijnagte-Schoenmaker, Emma Dyke

|Jun 30, 2023
N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.

Afitz Da Silva, Junio Dort, Zakaria Orfi

|Jun 21, 2023
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.

Bibiche den Hollander, Marion M Brands, Lonneke de Boer

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Frequent Collaborators

3 joint publications

Thomas J Boltje

2 joint publications

Ron A Wevers

2 joint publications

Sjanie Huang

2 joint publications

Karlien L M Coene