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Results by year

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

Year Number of Results
1994 1
1995 2
1996 2
1997 5
1998 4
1999 3
2000 2
2001 5
2002 4
2003 9
2004 8
2005 3
2006 7
2007 5
2008 4
2009 3
2010 5
2011 3
2012 5
2013 4
2014 6
2015 3
2016 8
2017 8
2018 8
2019 3
2020 8
2021 11
2022 6
2023 2
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Publication date

Search Results

125 results
Results by year
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Page 1
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B, Kwast HJT, van de Vorst M, Huigen MCDG, Keularts IMLW, Schreuder MF, van Karnebeek CDM, Wortmann SB, de Vries MC, Janssen MCH, Gilissen C, Engel J, Wevers RA. Coene KLM, et al. Among authors: kluijtmans laj. J Inherit Metab Dis. 2018 May;41(3):337-353. doi: 10.1007/s10545-017-0131-6. Epub 2018 Feb 16. J Inherit Metab Dis. 2018. PMID: 29453510 Free PMC article.
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.
Cerebrotendinous xanthomatosis without neurological involvement.
Stelten BML, Raal FJ, Marais AD, Riksen NP, Roeters van Lennep JE, Duell PB, van der Graaf M, Kluijtmans LAJ, Wevers RA, Verrips A. Stelten BML, et al. Among authors: kluijtmans laj. J Intern Med. 2021 Nov;290(5):1039-1047. doi: 10.1111/joim.13277. Epub 2021 Apr 8. J Intern Med. 2021. PMID: 33830582
The 3-methylglutaconic acidurias: what's new?
Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. Wortmann SB, et al. Among authors: kluijtmans la. J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30. J Inherit Metab Dis. 2012. PMID: 20882351 Free PMC article. Review.
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Kraus JP, et al. Among authors: kluijtmans la. Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10338090 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.
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.
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.
125 results