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Works by Bonte, Ramon

Results: 6

1

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

Published in:

2016

By:

Olgiati, Simone;
Skorvanek, Matej;
Quadri, Marialuisa;
Minneboo, Michelle;
Graafland, Josja;
Breedveld, Guido J.;
Bonte, Ramon;
Ozgur, Zeliha;
Hout, Mirjam C.G.N.;
Schoonderwoerd, Kees;
Verheijen, Frans W.;
IJcken, Wilfred F.J.;
Chien, Hsin Fen;
Barbosa, Egberto Reis;
Chang, Hsiu‐Chen;
Lai, Szu‐Chia;
Yeh, Tu‐Hsueh;
Lu, Chin‐Song;
Wu‐Chou, Yah‐Huei;
Kievit, Anneke J.A.

Publication type:

journal article

2

Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data.

Published in:

Metabolites (2218-1989), 2023, v. 13, n. 1, p. 97, doi. 10.3390/metabo13010097

By:

Bongaerts, Michiel;
Kulkarni, Purva;
Zammit, Alan;
Bonte, Ramon;
Kluijtmans, Leo A. J.;
Blom, Henk J.;
Engelke, Udo F. H.;
Tax, David M. J.;
Ruijter, George J. G.;
Reinders, Marcel J. T.

Publication type:

Article

3

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.

Published in:

Metabolites (2218-1989), 2021, v. 11, n. 1, p. 8, doi. 10.3390/metabo11010008

By:

Bongaerts, Michiel;
Bonte, Ramon;
Demirdas, Serwet;
Jacobs, Edwin H.;
Oussoren, Esmee;
van der Ploeg, Ans T.;
Wagenmakers, Margreet A. E. M.;
Hofstra, Robert M. W.;
Blom, Henk J.;
Reinders, Marcel J. T.;
Ruijter, George J. G.

Publication type:

Article

4

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.

Published in:

Metabolites (2218-1989), 2019, v. 9, n. 12, p. 289, doi. 10.3390/metabo9120289

By:

Bonte, Ramon;
Bongaerts, Michiel;
Demirdas, Serwet;
Langendonk, Janneke G.;
Huidekoper, Hidde H.;
Williams, Monique;
Onkenhout, Willem;
Jacobs, Edwin H.;
Blom, Henk J.;
Ruijter, George J. G.

Publication type:

Article

5

Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5077, doi. 10.3390/ijms24065077

By:

de Bruyn, Daniël P.;
Bongaerts, Michiel;
Bonte, Ramon;
Vaarwater, Jolanda;
Meester-Smoor, Magda A.;
Verdijk, Robert M.;
Paridaens, Dion;
Naus, Nicole C.;
de Klein, Annelies;
Ruijter, George J. G.;
Kiliç, Emine;
Brosens, Erwin

Publication type:

Article

6

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 889, doi. 10.1007/s10545-014-9809-1

By:

Wamelink, Mirjam;
Ramos, Ruben;
Elzen, Annette;
Ruijter, George;
Bonte, Ramon;
Diogo, Luisa;
Garcia, Paula;
Neves, Nelson;
Nota, Benjamin;
Haschemi, Arvand;
Tavares de Almeida, Isabel;
Salomons, Gajja

Publication type:

Article