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Year Number of Results
2003 1
2005 1
2007 2
2008 1
2014 1
2015 1
2016 1
2017 1
2018 1
2019 2
2020 2
2021 6
2022 4
2023 1
2024 0

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20 results

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Page 1
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.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Ferreira EA, Veenvliet ARJ, Engelke UFH, Kluijtmans LAJ, Huigen MCDG, Hoegen B, de Boer L, de Vries MC, van Bon BW, Leenders E, Cornelissen EAM, Haaxma CA, Schieving JH, Rubio-Gozalbo ME, Körver-Keularts IMLW, Marten LM, Diegmann S, Mourmans J, Rennings AJM, van Karnebeek CDM, Rodenburg RJ, Coene KLM. Ferreira EA, et al. Among authors: huigen mcdg. Genet Med. 2023 Jan;25(1):125-134. doi: 10.1016/j.gim.2022.10.002. Epub 2022 Nov 9. Genet Med. 2023. PMID: 36350326 Free article.
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.
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
20 results