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2022 Overview of Metabolic Epilepsies.
Tumiene B, Ferreira CR, van Karnebeek CDM. Tumiene B, et al. Among authors: van karnebeek cdm. Genes (Basel). 2022 Mar 12;13(3):508. doi: 10.3390/genes13030508. Genes (Basel). 2022. PMID: 35328062 Free PMC article. Review.
The role of the clinician in the multi-omics era: are you ready?
van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM. van Karnebeek CDM, et al. Among authors: van de kamp jm. J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23. J Inherit Metab Dis. 2018. PMID: 29362952 Free PMC article.
Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.
Ferreira CR, Goorden SMI, Soldatos A, Byers HM, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Groden C, van Karnebeek CD, Gahl WA, Vaz FM, Jiang X, Vernon HJ. Ferreira CR, et al. Mol Genet Metab. 2018 Jul;124(3):204-209. doi: 10.1016/j.ymgme.2018.05.001. Epub 2018 May 7. Mol Genet Metab. 2018. PMID: 29789193 Free PMC article.
A proposed nosology of inborn errors of metabolism.
Ferreira CR, van Karnebeek CDM, Vockley J, Blau N. Ferreira CR, et al. Among authors: van karnebeek cdm. Genet Med. 2019 Jan;21(1):102-106. doi: 10.1038/s41436-018-0022-8. Epub 2018 Jun 8. Genet Med. 2019. PMID: 29884839 Free PMC article.
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.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Fazal S, Danzi MC, van Kuilenburg ABP, Reich S, Traschütz A, Bender B, Leen R, Toro C, Usdin K, Hayward B, Adams DR, van Karnebeek CDM, Ferreira CR, D'Sousa P, Network UD, Tekin M, Züchner S, Synofzik M. Fazal S, et al. Among authors: van karnebeek cdm, van kuilenburg abp. Hum Mol Genet. 2023 Jan 1;32(1):46-54. doi: 10.1093/hmg/ddac173. Hum Mol Genet. 2023. PMID: 35913761 Free PMC article.
169 results