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Page 1
Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood.
de Bruyn DP, Bongaerts M, Bonte R, Vaarwater J, Meester-Smoor MA, Verdijk RM, Paridaens D, Naus NC, de Klein A, Ruijter GJG, Kiliç E, Brosens E; Rotterdam Ocular Melanoma Study Group (ROMS). de Bruyn DP, et al. Among authors: bonte r. Int J Mol Sci. 2023 Mar 7;24(6):5077. doi: 10.3390/ijms24065077. Int J Mol Sci. 2023. PMID: 36982149 Free PMC article.
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Olgiati S, Skorvanek M, Quadri M, Minneboo M, Graafland J, Breedveld GJ, Bonte R, Ozgur Z, van den Hout MC, Schoonderwoerd K, Verheijen FW, van IJcken WF, Chien HF, Barbosa ER, Chang HC, Lai SC, Yeh TH, Lu CS, Wu-Chou YH, Kievit AJ, Han V, Gdovinova Z, Jech R, Hofstra RM, Ruijter GJ, Mandemakers W, Bonifati V. Olgiati S, et al. Among authors: bonte r. Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19. Mov Disord. 2016. PMID: 27090768
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS. Wamelink MM, et al. Among authors: bonte r. J Inherit Metab Dis. 2015 Sep;38(5):889-94. doi: 10.1007/s10545-014-9809-1. Epub 2015 Feb 3. J Inherit Metab Dis. 2015. PMID: 25647543 Free PMC article.