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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: janssen mch. 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.
Inheritance of the m.3243A>G mutation.
de Laat P, Koene S, Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA. de Laat P, et al. JIMD Rep. 2013;8:47-50. doi: 10.1007/8904_2012_159. Epub 2012 Jul 6. JIMD Rep. 2013. PMID: 23430519 Free PMC article.
Serum FGF21 levels in adult m.3243A>G carriers: clinical implications.
Koene S, de Laat P, van Tienoven DH, Vriens D, Brandt AM, Sweep FC, Rodenburg RJ, Donders AR, Janssen MC, Smeitink JA. Koene S, et al. Neurology. 2014 Jul 8;83(2):125-33. doi: 10.1212/WNL.0000000000000578. Epub 2014 Jun 6. Neurology. 2014. PMID: 24907231
Second international round robin for the quantification of serum non-transferrin-bound iron and labile plasma iron in patients with iron-overload disorders.
de Swart L, Hendriks JC, van der Vorm LN, Cabantchik ZI, Evans PJ, Hod EA, Brittenham GM, Furman Y, Wojczyk B, Janssen MC, Porter JB, Mattijssen VE, Biemond BJ, MacKenzie MA, Origa R, Galanello R, Hider RC, Swinkels DW. de Swart L, et al. Haematologica. 2016 Jan;101(1):38-45. doi: 10.3324/haematol.2015.133983. Epub 2015 Sep 18. Haematologica. 2016. PMID: 26385212 Free PMC article.
162 results