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Page 1
International Paediatric Mitochondrial Disease Scale.
Koene S, Hendriks JCM, Dirks I, de Boer L, de Vries MC, Janssen MCH, Smuts I, Fung CW, Wong VCN, de Coo IRFM, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJM, Smeitink JAM. Koene S, et al. Among authors: de boer l, de vries mc, de groot ijm, de coo irfm. J Inherit Metab Dis. 2016 Sep;39(5):705-712. doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9. J Inherit Metab Dis. 2016. PMID: 27277220 Free PMC article.
Depressive behaviour in children diagnosed with a mitochondrial disorder.
Morava E, Gardeitchik T, Kozicz T, de Boer L, Koene S, de Vries MC, McFarland R, Roobol T, Rodenburg RJ, Verhaak CM. Morava E, et al. Among authors: de boer l, de vries mc. Mitochondrion. 2010 Aug;10(5):528-33. doi: 10.1016/j.mito.2010.05.011. Epub 2010 May 31. Mitochondrion. 2010. PMID: 20573558
High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.
Franik S, Huidekoper HH, Visser G, de Vries M, de Boer L, Hermans-Peters M, Rodenburg R, Verhaak C, Vlieger AM, Smeitink JA, Janssen MC, Wortmann SB. Franik S, et al. Among authors: de boer l, de vries m. J Inherit Metab Dis. 2015 May;38(3):477-82. doi: 10.1007/s10545-014-9773-9. Epub 2014 Oct 11. J Inherit Metab Dis. 2015. PMID: 25303853
Radboud Centre for Mitochondrial Medicine Pediatric MRI score.
Wong SS, Goraj B, Fung CW, Vister J, de Boer L, Koene S, Smeitink J. Wong SS, et al. Among authors: de boer l. Mitochondrion. 2017 Jan;32:36-41. doi: 10.1016/j.mito.2016.11.008. Epub 2016 Nov 16. Mitochondrion. 2017. PMID: 27865797
Quantification of gait in children with mitochondrial disease.
Koene S, Stolwijk NM, Ramakers R, de Vries M, de Boer L, Janssen MCH, de Groot I, Smeitink J. Koene S, et al. Among authors: de groot i, de boer l, de vries m. J Inherit Metab Dis. 2018 Jul;41(4):731-740. doi: 10.1007/s10545-018-0148-5. Epub 2018 Mar 12. J Inherit Metab Dis. 2018. PMID: 29532198
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ. Abu Bakar N, et al. Among authors: de boer l, de mello wd, de rizzo impo, de carvalho dr. J Inherit Metab Dis. 2022 Jul;45(4):769-781. doi: 10.1002/jimd.12496. Epub 2022 Mar 28. J Inherit Metab Dis. 2022. PMID: 35279850 Free PMC article.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M, Fuchs SA, de Boer L, Bosch AM, Cuppen I, Dekkers E, Derks TGJ, Ferdinandusse S, Ijlst L, Houtkooper RH, Maase R, van der Pol WL, de Vries MC, Verschoof-Puite RK, Wanders RJA, Williams M, Wijburg F, Visser G. Schwantje M, et al. Among authors: de boer l, de vries mc. J Inherit Metab Dis. 2022 Jul;45(4):804-818. doi: 10.1002/jimd.12502. Epub 2022 Apr 19. J Inherit Metab Dis. 2022. PMID: 35383965 Free PMC article.
A randomised placebo-controlled, double-blind phase II study to explore the safety, efficacy, and pharmacokinetics of sonlicromanol in children with genetically confirmed mitochondrial disease and motor symptoms ("KHENERGYC").
Smeitink J, van Maanen R, de Boer L, Ruiterkamp G, Renkema H. Smeitink J, et al. Among authors: de boer l. BMC Neurol. 2022 Apr 27;22(1):158. doi: 10.1186/s12883-022-02685-3. BMC Neurol. 2022. PMID: 35477351 Free PMC article. Clinical Trial.
232 results