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

Year Number of Results
2002 3
2003 8
2004 6
2005 2
2006 3
2007 3
2008 2
2009 2
2010 2
2011 3
2012 3
2013 3
2014 5
2015 3
2016 6
2017 8
2018 8
2019 3
2020 8
2021 9
2022 6
2023 3
2024 0

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81 results

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Page 1
Response to Biesecker et al.
Shen JJ, Wortmann SB, Kluijtmans LAJ, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. Shen JJ, et al. Among authors: kluijtmans laj. Genet Med. 2021 Apr;23(4):793-794. doi: 10.1038/s41436-020-01055-z. Epub 2021 Jan 8. Genet Med. 2021. PMID: 33420347 Free article. No abstract available.
Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.
Martens J, Berden G, Bentlage H, Coene KLM, Engelke UF, Wishart D, van Scherpenzeel M, Kluijtmans LAJ, Wevers RA, Oomens J. Martens J, et al. Among authors: kluijtmans laj. J Inherit Metab Dis. 2018 May;41(3):367-377. doi: 10.1007/s10545-018-0161-8. Epub 2018 Mar 19. J Inherit Metab Dis. 2018. PMID: 29556837 Free PMC article. Review.
Genetics of hyperhomocysteinaemia in cardiovascular disease.
Lievers KJ, Kluijtmans LA, Blom HJ. Lievers KJ, et al. Among authors: kluijtmans la. Ann Clin Biochem. 2003 Jan;40(Pt 1):46-59. doi: 10.1258/000456303321016169. Ann Clin Biochem. 2003. PMID: 12542910 Review.
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Václavík J, Mádrová L, Kouřil Š, de Sousa J, Brumarová R, Janečková H, Jáčová J, Friedecký D, Knapková M, Kluijtmans LAJ, Grünert SC, Vaz FM, Janzen N, Wanders RJA, Wevers RA, Adam T. Václavík J, et al. Among authors: kluijtmans laj. JIMD Rep. 2020 Apr 14;54(1):79-86. doi: 10.1002/jmd2.12118. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685354 Free PMC article.
Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma.
Bliziotis NG, Kluijtmans LAJ, Soto S, Tinnevelt GH, Langton K, Robledo M, Pamporaki C, Engelke UFH, Erlic Z, Engel J, Deutschbein T, Nölting S, Prejbisz A, Richter S, Prehn C, Adamski J, Januszewicz A, Reincke M, Fassnacht M, Eisenhofer G, Beuschlein F, Kroiss M, Wevers RA, Jansen JJ, Deinum J, Timmers HJLM. Bliziotis NG, et al. Among authors: kluijtmans laj. Endocrine. 2022 Jan;75(1):254-265. doi: 10.1007/s12020-021-02858-z. Epub 2021 Sep 18. Endocrine. 2022. PMID: 34536194 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: kluijtmans laj. 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.
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.
Graham E, Lee J, Price M, Tarailo-Graovac M, Matthews A, Engelke U, Tang J, Kluijtmans LAJ, Wevers RA, Wasserman WW, van Karnebeek CDM, Mostafavi S. Graham E, et al. Among authors: kluijtmans laj. J Inherit Metab Dis. 2018 May;41(3):435-445. doi: 10.1007/s10545-018-0139-6. Epub 2018 May 2. J Inherit Metab Dis. 2018. PMID: 29721916 Free PMC article. Review.
The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM. O'Byrne JJ, et al. Among authors: kluijtmans laj. Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15. Mol Genet Metab. 2018. PMID: 29331171 Free PMC article.
81 results