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Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch R, Barić I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM, Coene KLM. Peters TMA, et al. Among authors: merx j. J Inherit Metab Dis. 2023 Jul 16. doi: 10.1002/jimd.12657. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37455357 Review.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
Peters TMA, Merx J, Kooijman PC, Noga M, de Boer S, van Gemert LA, Salden G, Engelke UFH, Lefeber DJ, van Outersterp RE, Berden G, Boltje TJ, Artuch R, Pías-Peleteiro L, García-Cazorla Á, Barić I, Thöny B, Oomens J, Martens J, Wevers RA, Verbeek MM, Coene KLM, Willemsen MAAP. Peters TMA, et al. Among authors: merx j. J Inherit Metab Dis. 2023 Jan;46(1):66-75. doi: 10.1002/jimd.12554. Epub 2022 Oct 17. J Inherit Metab Dis. 2023. PMID: 36088537 Free PMC article.
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM Jr, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL. Engelke UF, et al. Among authors: merx j. J Clin Invest. 2021 Aug 2;131(15):e148272. doi: 10.1172/JCI148272. J Clin Invest. 2021. PMID: 34138754 Free PMC article.
Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy.
van Outersterp RE, Engelke UFH, Merx J, Berden G, Paul M, Thomulka T, Berkessel A, Huigen MCDG, Kluijtmans LAJ, Mecinović J, Rutjes FPJT, van Karnebeek CDM, Wevers RA, Boltje TJ, Coene KLM, Martens J, Oomens J. van Outersterp RE, et al. Among authors: merx j. Anal Chem. 2021 Nov 23;93(46):15340-15348. doi: 10.1021/acs.analchem.1c02896. Epub 2021 Nov 10. Anal Chem. 2021. PMID: 34756024 Free PMC article.
Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism.
van Outersterp RE, Kooijman PC, Merx J, Engelke UFH, Omidikia N, Tonneijck MH, Houthuijs KJ, Berden G, Peters TMA, Lefeber DJ, Willemsen MAAP, Mecinovic J, Jansen JJ, Coene KLM, Wevers RA, Boltje TJ, Oomens J, Martens J. van Outersterp RE, et al. Among authors: merx j. Anal Chem. 2023 Jul 4;95(26):9787-9796. doi: 10.1021/acs.analchem.3c00363. Epub 2023 Jun 21. Anal Chem. 2023. PMID: 37341384 Free PMC article.
Fluorinated rhamnosides inhibit cellular fucosylation.
Pijnenborg JFA, Rossing E, Merx J, Noga MJ, Titulaer WHC, Eerden N, Veizaj R, White PB, Lefeber DJ, Boltje TJ. Pijnenborg JFA, et al. Among authors: merx j. Nat Commun. 2021 Dec 2;12(1):7024. doi: 10.1038/s41467-021-27355-9. Nat Commun. 2021. PMID: 34857733 Free PMC article.
40 results