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Page 1
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.
Kuiper A, Grünewald S, Murphy E, Coenen MA, Eggink H, Zutt R, Rubio-Gozalbo ME, Bosch AM, Williams M, Derks TGJ, Lachmann RHL, Brouwers MCGJ, Janssen MCH, Tijssen MA, de Koning TJ. Kuiper A, et al. Among authors: derks tgj. J Inherit Metab Dis. 2019 May;42(3):451-458. doi: 10.1002/jimd.12054. Epub 2019 Feb 27. J Inherit Metab Dis. 2019. PMID: 30815886
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Friederich MW, et al. Among authors: derks tgj. Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w. Nat Commun. 2018. PMID: 30283131 Free PMC article.
Transcriptome analysis suggests a compensatory role of the cofactors coenzyme A and NAD+ in medium-chain acyl-CoA dehydrogenase knockout mice.
Martines AMF, Gerding A, Stolle S, Vieira-Lara MA, Wolters JC, Jurdzinski A, Bongiovanni L, de Bruin A, van der Vlies P, van der Vries G, Bloks VW, Derks TGJ, Reijngoud DJ, Bakker BM. Martines AMF, et al. Among authors: derks tgj. Sci Rep. 2019 Oct 10;9(1):14539. doi: 10.1038/s41598-019-50758-0. Sci Rep. 2019. PMID: 31601874 Free PMC article.
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
Veenvliet ARJ, Garrelfs MR, Udink Ten Cate FEA, Ferdinandusse S, Denis S, Fuchs SA, Schwantje M, Geurtzen R, van Wegberg AMJ, Huigen MCDG, Kluijtmans LAJ, Wanders RJA, Derks TGJ, de Boer L, Houtkooper RH, de Vries MC, van Karnebeek CDM. Veenvliet ARJ, et al. Among authors: derks tgj. Mol Genet Metab Rep. 2022 May 4;31:100873. doi: 10.1016/j.ymgmr.2022.100873. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782614 Free PMC article.
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.
Peeks F, Steunenberg TAH, de Boer F, Rubio-Gozalbo ME, Williams M, Burghard R, Rajas F, Oosterveer MH, Weinstein DA, Derks TGJ. Peeks F, et al. Among authors: derks tgj. J Inherit Metab Dis. 2017 Sep;40(5):695-702. doi: 10.1007/s10545-017-0039-1. Epub 2017 Apr 10. J Inherit Metab Dis. 2017. PMID: 28397058 Free PMC article.
Next-generation glycogen storage diseases.
Derks TGJ, Oosterveer MH, De Souza CF. Derks TGJ, et al. J Inherit Metab Dis. 2018 Nov;41(6):911-912. doi: 10.1007/s10545-018-00250-0. J Inherit Metab Dis. 2018. PMID: 30471000 Free PMC article. No abstract available.
111 results