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

Year Number of Results
2002 3
2003 1
2005 2
2011 2
2012 3
2013 1
2014 10
2015 14
2016 16
2017 15
2018 17
2019 19
2020 10
2021 19
2022 14
2023 4
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Search Results

129 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.
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 retinal pigmentation pathway in human albinism: Not so black and white.
Bakker R, Wagstaff EL, Kruijt CC, Emri E, van Karnebeek CDM, Hoffmann MB, Brooks BP, Boon CJF, Montoliu L, van Genderen MM, Bergen AA. Bakker R, et al. Among authors: van karnebeek cdm. Prog Retin Eye Res. 2022 Nov;91:101091. doi: 10.1016/j.preteyeres.2022.101091. Epub 2022 Jun 18. Prog Retin Eye Res. 2022. PMID: 35729001 Free article. Review.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Wortmann SB, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger RG, Garanto A, Hoischen A, Langeveld M, Lefeber D, Mayr JA, Ockeloen CW, Prokisch H, Rodenburg R, Waterham HR, Wevers RA, van de Warrenburg BPC, Willemsen MAAP, Wolf NI, Vissers LELM, van Karnebeek CDM. Wortmann SB, et al. Among authors: van karnebeek cdm. J Inherit Metab Dis. 2022 Jul;45(4):663-681. doi: 10.1002/jimd.12507. Epub 2022 May 22. J Inherit Metab Dis. 2022. PMID: 35506430 Free PMC article. Review.
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. Coughlin CR 2nd, et al. Among authors: van karnebeek cdm. J Inherit Metab Dis. 2019 Mar;42(2):353-361. doi: 10.1002/jimd.12045. Epub 2019 Feb 22. J Inherit Metab Dis. 2019. PMID: 30043187 Free PMC article. Review.
129 results