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Analytica Chimica Acta|November 19, 2019
Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspectiveJonathan Martens, Rianne E van Outersterp, Rob J Vreeken, et al.
Brain : a Journal of Neurology|November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategySaskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
Neurology|September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathyS B Wortmann, B H Kremer, A Graham, et al.
Brain Communications|November 12, 2025
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouseClara D M van Karnebeek, Valérie Gailus-Durner, Udo F Engelke, et al.
Frontiers in Microbiology|January 19, 2016
Microbial Metabolism Shifts Towards an Adverse Profile with Supplementary Iron in the TIM-2 In vitro Model of the Human ColonGuus A M Kortman, Bas E Dutilh, Annet J H Maathuis, et al.
Biochemical and Biophysical Research Communications|November 9, 2005
Aminoacylase I deficiency: a novel inborn error of metabolismR N Van Coster, E A Gerlo, T G Giardina, et al.
Chemistry & Biology|December 22, 2015
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-MannosylationMoniek Riemersma, D Sean Froese, Walinka van Tol, et al.
Nature Genetics|December 20, 2017
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosisArjan Pol, G Herma Renkema, Albert Tangerman, et al.
Acta Crystallographica. Section D, Biological Crystallography|September 27, 2006
NMR in the SPINE Structural Proteomics projectE Ab, A R Atkinson, L Banci, et al.
Molecular Genetics and Metabolism|January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiencyJames J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
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