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

Year Number of Results
1993 2
1999 1
2000 1
2001 1
2002 3
2003 1
2005 2
2011 3
2012 4
2013 3
2014 21
2015 25
2016 25
2017 26
2018 26
2019 25
2020 18
2021 32
2022 24
2023 8
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Search Results

211 results
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Page 1
NAD+ homeostasis in human health and disease.
Zapata-Pérez R, Wanders RJA, van Karnebeek CDM, Houtkooper RH. Zapata-Pérez R, et al. Among authors: van karnebeek cdm. EMBO Mol Med. 2021 Jul 7;13(7):e13943. doi: 10.15252/emmm.202113943. Epub 2021 May 27. EMBO Mol Med. 2021. PMID: 34041853 Free PMC article. Review.
Inborn errors of metabolism.
Ferreira CR, van Karnebeek CDM. Ferreira CR, et al. Among authors: van karnebeek cdm. Handb Clin Neurol. 2019;162:449-481. doi: 10.1016/B978-0-444-64029-1.00022-9. Handb Clin Neurol. 2019. PMID: 31324325 Review.
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. Among authors: van karnebeek c. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE, Adjobo-Hermans MJW, Keijer J, Schirris TJJ, Homberg JR, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Koopman WJH. van de Wal MAE, et al. Among authors: van karnebeek c. Brain. 2022 Mar 29;145(1):45-63. doi: 10.1093/brain/awab426. Brain. 2022. PMID: 34849584 Free PMC article. Review.
Inborn disorders of the malate aspartate shuttle.
Broeks MH, van Karnebeek CDM, Wanders RJA, Jans JJM, Verhoeven-Duif NM. Broeks MH, et al. Among authors: van karnebeek cdm. J Inherit Metab Dis. 2021 Jul;44(4):792-808. doi: 10.1002/jimd.12402. Epub 2021 May 24. J Inherit Metab Dis. 2021. PMID: 33990986 Free PMC article. Review.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: van karnebeek cdm. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
The ketogenic diet as a therapeutic intervention strategy in mitochondrial disease.
Qu C, Keijer J, Adjobo-Hermans MJW, van de Wal M, Schirris T, van Karnebeek C, Pan Y, Koopman WJH. Qu C, et al. Among authors: van karnebeek c. Int J Biochem Cell Biol. 2021 Sep;138:106050. doi: 10.1016/j.biocel.2021.106050. Epub 2021 Jul 21. Int J Biochem Cell Biol. 2021. PMID: 34298163 Free article. Review.
Movement Disorders in Treatable Inborn Errors of Metabolism.
Ebrahimi-Fakhari D, Van Karnebeek C, Münchau A. Ebrahimi-Fakhari D, et al. Among authors: van karnebeek c. Mov Disord. 2019 May;34(5):598-613. doi: 10.1002/mds.27568. Epub 2018 Dec 17. Mov Disord. 2019. PMID: 30557456 Review.
211 results