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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2005 1
2006 1
2007 2
2008 1
2010 2
2011 1
2014 1
2015 1
2016 1
2017 1
2018 1
2019 2
2020 2
2021 7
2022 5
2023 2
2024 0

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25 results

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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: huigen mc. J Clin Invest. 2021 Aug 2;131(15):e148272. doi: 10.1172/JCI148272. J Clin Invest. 2021. PMID: 34138754 Free PMC article.
Effect of drugs on renal development.
Schreuder MF, Bueters RR, Huigen MC, Russel FG, Masereeuw R, van den Heuvel LP. Schreuder MF, et al. Among authors: huigen mc. Clin J Am Soc Nephrol. 2011 Jan;6(1):212-7. doi: 10.2215/CJN.04740510. Epub 2010 Nov 11. Clin J Am Soc Nephrol. 2011. PMID: 21071516 Review.
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
Merx J, van Outersterp RE, Engelke UFH, Hendriks V, Wevers RA, Huigen MCDG, Waterval HWAH, Körver-Keularts IMLW, Mecinović J, Rutjes FPJT, Oomens J, Coene KLM, Martens J, Boltje TJ. Merx J, et al. Among authors: huigen mcdg. Commun Biol. 2022 Sep 21;5(1):997. doi: 10.1038/s42003-022-03960-2. Commun Biol. 2022. PMID: 36131087 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: huigen mcdg. 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.
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: huigen mcdg. Commun Biol. 2021 Mar 19;4(1):367. doi: 10.1038/s42003-021-01909-5. Commun Biol. 2021. PMID: 33742102 Free PMC article.
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.
Huigen MC, van der Graaf M, Morava E, Dassel AC, van Steensel MA, Seyger MM, Wevers RA, Willemsen MA. Huigen MC, et al. Mol Genet Metab. 2015 Jan;114(1):51-4. doi: 10.1016/j.ymgme.2014.10.016. Epub 2014 Nov 4. Mol Genet Metab. 2015. PMID: 25468645
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA. van Karnebeek CDM, et al. Among authors: huigen mcdg. Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15. Am J Hum Genet. 2019. PMID: 31422819 Free PMC article.
25 results