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Page 1
Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood.
Int J Mol Sci. 2023 Mar 7;24(6):5077. doi: 10.3390/ijms24065077.
Int J Mol Sci. 2023.
PMID: 36982149
Free PMC article.
Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data.
Bongaerts M, Kulkarni P, Zammit A, Bonte R, Kluijtmans LAJ, Blom HJ, Engelke UFH, Tax DMJ, Ruijter GJG, Reinders MJT.
Bongaerts M, et al. Among authors: bonte r.
Metabolites. 2023 Jan 7;13(1):97. doi: 10.3390/metabo13010097.
Metabolites. 2023.
PMID: 36677022
Free PMC article.
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Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores.
Bongaerts M, Bonte R, Demirdas S, Huidekoper HH, Langendonk J, Wilke M, de Valk W, Blom HJ, Reinders MJT, Ruijter GJG.
Bongaerts M, et al. Among authors: bonte r.
Mol Genet Metab. 2022 Jul;136(3):199-218. doi: 10.1016/j.ymgme.2022.05.002. Epub 2022 May 25.
Mol Genet Metab. 2022.
PMID: 35660124
Free article.
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Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.
Bongaerts M, Bonte R, Demirdas S, Jacobs EH, Oussoren E, van der Ploeg AT, Wagenmakers MAEM, Hofstra RMW, Blom HJ, Reinders MJT, Ruijter GJG.
Bongaerts M, et al. Among authors: bonte r.
Metabolites. 2020 Dec 25;11(1):8. doi: 10.3390/metabo11010008.
Metabolites. 2020.
PMID: 33375624
Free PMC article.
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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
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Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.
Bonte R, Bongaerts M, Demirdas S, Langendonk JG, Huidekoper HH, Williams M, Onkenhout W, Jacobs EH, Blom HJ, Ruijter GJG.
Bonte R, et al.
Metabolites. 2019 Nov 26;9(12):289. doi: 10.3390/metabo9120289.
Metabolites. 2019.
PMID: 31779119
Free PMC article.
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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.
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