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Page 1
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: van rooij a. J Clin Invest. 2021 Aug 2;131(15):e148272. doi: 10.1172/JCI148272. J Clin Invest. 2021. PMID: 34138754 Free PMC article.
Stable-isotope dilution liquid chromatography-electrospray injection tandem mass spectrometry method for fast, selective measurement of S-adenosylmethionine and S-adenosylhomocysteine in plasma.
Gellekink H, van Oppenraaij-Emmerzaal D, van Rooij A, Struys EA, den Heijer M, Blom HJ. Gellekink H, et al. Among authors: van oppenraaij emmerzaal d, van rooij a. Clin Chem. 2005 Aug;51(8):1487-92. doi: 10.1373/clinchem.2004.046995. Epub 2005 May 26. Clin Chem. 2005. PMID: 15919880 Free article.
Methylmalonic acid values in healthy Dutch children.
Hogeveen M, van Beynum I, van Rooij A, Kluijtmans L, den Heijer M, Blom H. Hogeveen M, et al. Among authors: van beynum i, van rooij a. Eur J Nutr. 2008 Feb;47(1):26-31. doi: 10.1007/s00394-007-0692-5. Epub 2007 Dec 18. Eur J Nutr. 2008. PMID: 18092123
Evaluation of cyclooxygenase oxylipins as potential biomarker for obesity-associated adipose tissue inflammation and type 2 diabetes using targeted multiple reaction monitoring mass spectrometry.
Tans R, Bande R, van Rooij A, Molloy BJ, Stienstra R, Tack CJ, Wevers RA, Wessels HJCT, Gloerich J, van Gool AJ. Tans R, et al. Among authors: van rooij a. Prostaglandins Leukot Essent Fatty Acids. 2020 Sep;160:102157. doi: 10.1016/j.plefa.2020.102157. Epub 2020 Jun 27. Prostaglandins Leukot Essent Fatty Acids. 2020. PMID: 32629236 Free article.
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism.
van Outersterp RE, Moons SJ, Engelke UFH, Bentlage H, Peters TMA, van Rooij A, Huigen MCDG, de Boer S, van der Heeft E, Kluijtmans LAJ, van Karnebeek CDM, Wevers RA, Berden G, Oomens J, Boltje TJ, Coene KLM, Martens J. van Outersterp RE, et al. Among authors: van rooij a. Commun Biol. 2021 Mar 19;4(1):367. doi: 10.1038/s42003-021-01909-5. Commun Biol. 2021. PMID: 33742102 Free PMC article.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
Post MA, de Wit I, Zijlstra FSM, Engelke UFH, van Rooij A, Christodoulou J, Tan TY, Le Fevre A, Jin D, Yaplito-Lee J, Lee BH, Low KJ, Mallick AA, Õunap K, Pitt J, Reardon W, Vals MA, Wortmann SB, Wessels HJCT, Bärenfänger M, van Karnebeek CDM, Lefeber DJ. Post MA, et al. Among authors: van rooij a. J Inherit Metab Dis. 2023 Mar;46(2):313-325. doi: 10.1002/jimd.12588. Epub 2023 Feb 1. J Inherit Metab Dis. 2023. PMID: 36651519
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. Carrozzo R, et al. Among authors: van rooij a. Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14. Brain. 2007. PMID: 17301081
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van Rooij A, Huijben K, van Ravenswaaij-Arts CM, Jongmans MC, Sykut-Cegielska J, Hoffmann GF, Bluemel P, Adamowicz M, van Reeuwijk J, Ng BG, Bergman JE, van Bokhoven H, Körner C, Babovic-Vuksanovic D, Willemsen MA, Gleeson JG, Lehle L, de Brouwer AP, Lefeber DJ. Morava E, et al. Among authors: van reeuwijk j, van ravenswaaij arts cm, van bokhoven h, van rooij a. Brain. 2010 Nov;133(11):3210-20. doi: 10.1093/brain/awq261. Epub 2010 Sep 17. Brain. 2010. PMID: 20852264 Free PMC article.
Increased mitochondrial activity in a novel IDH1-R132H mutant human oligodendroglioma xenograft model: in situ detection of 2-HG and α-KG.
Navis AC, Niclou SP, Fack F, Stieber D, van Lith S, Verrijp K, Wright A, Stauber J, Tops B, Otte-Holler I, Wevers RA, van Rooij A, Pusch S, von Deimling A, Tigchelaar W, van Noorden CJ, Wesseling P, Leenders WP. Navis AC, et al. Among authors: van lith s, van rooij a, van noorden cj. Acta Neuropathol Commun. 2013 May 29;1:18. doi: 10.1186/2051-5960-1-18. Acta Neuropathol Commun. 2013. PMID: 24252742 Free PMC article.
49 results