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CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wassermann WW, Houtkooper RH, van Kuilenburg ABP. van Karnebeek CDM, et al. Among authors: roelofsen j. Genet Med. 2024 Feb 24;26(6):101104. doi: 10.1016/j.gim.2024.101104. Online ahead of print. Genet Med. 2024. PMID: 38411040 Free article.
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Nakajima Y, Meijer J, Dobritzsch D, Ito T, Zhang C, Wang X, Watanabe Y, Tashiro K, Meinsma R, Roelofsen J, Zoetekouw L, van Kuilenburg ABP. Nakajima Y, et al. Among authors: roelofsen j. Mol Genet Metab. 2017 Dec;122(4):216-222. doi: 10.1016/j.ymgme.2017.10.003. Epub 2017 Oct 12. Mol Genet Metab. 2017. PMID: 29054612
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NG, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A, Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg AB. Nakajima Y, et al. Among authors: roelofsen j. J Inherit Metab Dis. 2014 Sep;37(5):801-12. doi: 10.1007/s10545-014-9682-y. Epub 2014 Feb 14. J Inherit Metab Dis. 2014. PMID: 24526388 Free PMC article.
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
Kuilenburg ABPV, Meijer J, Tanck MWT, Dobritzsch D, Zoetekouw L, Dekkers LL, Roelofsen J, Meinsma R, Wymenga M, Kulik W, Büchel B, Hennekam RCM, Largiadèr CR. Kuilenburg ABPV, et al. Among authors: roelofsen j. Biochim Biophys Acta. 2016 Apr;1862(4):754-762. doi: 10.1016/j.bbadis.2016.01.009. Epub 2016 Jan 12. Biochim Biophys Acta. 2016. PMID: 26804652 Free article.
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.
van Kuilenburg AB, Meijer J, Gökcay G, Baykal T, Rubio-Gozalbo ME, Mul AN, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Roelofsen J, Vijzelaar R, Nicolai J, Hennekam RC. van Kuilenburg AB, et al. Among authors: roelofsen j. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):509-14. doi: 10.1080/15257771003730227. Nucleosides Nucleotides Nucleic Acids. 2010. PMID: 20544545
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.
Paisiou A, Rogalidou M, Pons R, Ioannidou E, Dimakou K, Papadopoulou A, Vaz FM, Vessalas G, Goorden SMI, Roelofsen J, Zoetekouw A, Nieman MM, Dimitriou E, Moraitou M, Peristeri I, Michelakakis H, van Kuilenburg ABP. Paisiou A, et al. Among authors: roelofsen j. Mol Genet Metab Rep. 2021 Dec 3;30:100829. doi: 10.1016/j.ymgmr.2021.100829. eCollection 2022 Mar. Mol Genet Metab Rep. 2021. PMID: 34926160 Free PMC article.
28 results