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Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Ferreira EA, Buijs MJN, Wijngaard R, Daams JG, Datema MR, Engelen M, van Karnebeek CDM, Oud MM, Vaz FM, Wamelink MMC, van der Crabben SN, Langeveld M. Ferreira EA, et al. Among authors: van der crabben sn, van karnebeek cdm. Front Neurol. 2023 Jul 25;14:1206106. doi: 10.3389/fneur.2023.1206106. eCollection 2023. Front Neurol. 2023. PMID: 37560457 Free PMC article.
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.
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M, Guella I, DeGuzman C, McKenzie MB, Buerki SE, Evans DM, Toyota EB, Boelman C, Huh LL, Datta A, Michoulas A, Selby K, Bjornson BH, Horvath G, Lopez-Rangel E, van Karnebeek CDM, Salvarinova R, Slade E, Eydoux P, Adam S, Van Allen MI, Nelson TN, Bolbocean C, Connolly MB, Farrer MJ. Demos M, et al. Among authors: van allen mi, van karnebeek cdm. Front Neurol. 2019 May 21;10:434. doi: 10.3389/fneur.2019.00434. eCollection 2019. Front Neurol. 2019. PMID: 31164858 Free PMC article.
Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy.
Richmond PA, van der Kloet F, Vaz FM, Lin D, Uzozie A, Graham E, Kobor M, Mostafavi S, Moerland PD, Lange PF, van Kampen AHC, Wasserman WW, Engelen M, Kemp S, van Karnebeek CDM. Richmond PA, et al. Among authors: van kampen ahc, van der kloet f, van karnebeek cdm. Front Cell Dev Biol. 2020 Jun 25;8:520. doi: 10.3389/fcell.2020.00520. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32671069 Free PMC article.
The variability conundrum in neurometabolic degenerative diseases.
van Karnebeek CDM, Richmond PA, van der Kloet F, Wasserman WW, Engelen M, Kemp S. van Karnebeek CDM, et al. Among authors: van der kloet f. Mol Genet Metab. 2020 Dec;131(4):367-369. doi: 10.1016/j.ymgme.2020.11.002. Epub 2020 Nov 6. Mol Genet Metab. 2020. PMID: 33246824 No abstract available.
Adult GAMT deficiency: A literature review and report of two siblings.
Modi BP, Khan HN, van der Lee R, Wasim M, Haaxma CA, Richmond PA, Drögemöller B, Shah S, Salomons G, van der Kloet FM, Vaz FM, van der Crabben SN, Ross CJ, Wasserman WW, van Karnebeek CDM, Awan FR. Modi BP, et al. Among authors: van der crabben sn, van karnebeek cdm, van der kloet fm, van der lee r. Mol Genet Metab Rep. 2021 Apr 26;27:100761. doi: 10.1016/j.ymgmr.2021.100761. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33996490 Free PMC article.
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
den Hollander B, Rasing A, Post MA, Klein WM, Oud MM, Brands MM, de Boer L, Engelke UFH, van Essen P, Fuchs SA, Haaxma CA, Jensson BO, Kluijtmans LAJ, Lengyel A, Lichtenbelt KD, Østergaard E, Peters G, Salvarinova R, Simon MEH, Stefansson K, Thorarensen Ó, Ulmen U, Coene KLM, Willemsen MA, Lefeber DJ, van Karnebeek CDM. den Hollander B, et al. Among authors: van essen p, van karnebeek cdm. Front Neurol. 2021 Jun 7;12:668640. doi: 10.3389/fneur.2021.668640. eCollection 2021. Front Neurol. 2021. PMID: 34163424 Free PMC article.
179 results