Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood
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
Published in International journal of molecular sciences (01.03.2023)
Published in International journal of molecular sciences (01.03.2023)
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Journal Article
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria
Hagen, Jacob, te Brinke, Heleen, Wanders, Ronald J. A., Knegt, Alida C., Oussoren, Esmee, Hoogeboom, A. Jeannette M., Ruijter, George J. G., Becker, Daniel, Schwab, Karl Otfried, Franke, Ingo, Duran, Marinus, Waterham, Hans R., Sass, Jörn Oliver, Houten, Sander M.
Published in Journal of inherited metabolic disease (01.09.2015)
Published in Journal of inherited metabolic disease (01.09.2015)
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Journal Article
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes
Oliva, Clara, Arias, Angela, Ruiz-Sala, Pedro, Garcia-Villoria, Judit, Carling, Rachel, Bierau, Jörgen, Ruijter, George J. G., Casado, Mercedes, Ormazabal, Aida, Artuch, Rafael
Published in Clinical chemistry and laboratory medicine (25.09.2024)
Published in Clinical chemistry and laboratory medicine (25.09.2024)
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Journal Article
Maternal Body Mass Index, Early-Pregnancy Metabolite Profile, and Birthweight
Wahab, Rama J, Jaddoe, Vincent W V, Voerman, Ellis, Ruijter, George J G, Felix, Janine F, Marchioro, Linda, Uhl, Olaf, Shokry, Engy, Koletzko, Berthold, Gaillard, Romy
Published in The journal of clinical endocrinology and metabolism (01.01.2022)
Published in The journal of clinical endocrinology and metabolism (01.01.2022)
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Journal Article
Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations
Valstar, Marlies J., Neijs, Sanne, Bruggenwirth, Hennie T., Olmer, Renske, Ruijter, George J. G., Wevers, Ron A., van Diggelen, Otto P., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.
Published in Annals of neurology (01.12.2010)
Published in Annals of neurology (01.12.2010)
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Journal Article
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS
van den Bosch, Jeroen, Oemardien, Linda F., Srebniak, Malgorzata I., Piraud, Monique, Huijmans, Jan G. M., Verheijen, Frans W., Ruijter, George J. G.
Published in Journal of inherited metabolic disease (01.10.2011)
Published in Journal of inherited metabolic disease (01.10.2011)
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Journal Article
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H., van Ham, Tjakko J., Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T., Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin Stefan
Published in Acta neuropathologica (01.08.2023)
Published in Acta neuropathologica (01.08.2023)
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Journal Article
Associations of maternal bisphenol urine concentrations during pregnancy with neonatal metabolomic profiles
Blaauwendraad, Sophia M., Voerman, Ellis, Trasande, Leonardo, Kannan, Kurunthachalam, Santos, Susana, Ruijter, George J. G., Sol, Chalana M., Marchioro, Linda, Shokry, Engy, Koletzko, Berthold, Jaddoe, Vincent W. V., Gaillard, Romy
Published in Metabolomics (01.09.2021)
Published in Metabolomics (01.09.2021)
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Journal Article
Glucose uptake and growth of glucose-limited chemostat cultures of Aspergillus niger and a disruptant lacking MstA, a high-affinity glucose transporter
Jorgensen, Thomas R, vanKuyk, Patricia A, Poulsen, Bjarne R, Ruijter, George J. G, Visser, Jaap, Iversen, Jens J. L
Published in Microbiology (Society for General Microbiology) (01.06.2007)
Published in Microbiology (Society for General Microbiology) (01.06.2007)
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Journal Article
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Olgiati, Simone, Skorvanek, Matej, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido J., Bonte, Ramon, Ozgur, Zeliha, van den Hout, Mirjam C.G.N., Schoonderwoerd, Kees, Verheijen, Frans W., van 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., Han, Vladimir, Gdovinova, Zuzana, Jech, Robert, Hofstra, Robert M.W., Ruijter, George J.G., Mandemakers, Wim, Bonifati, Vincenzo
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
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Journal Article
Technical Aspects of Coenzyme Q10 Analysis: Validation of a New HPLC-ED Method
Paredes-Fuentes, Abraham J., Oliva, Clara, Montero, Raquel, Alcaide, Patricia, Ruijter, George J. G., García-Villoria, Judit, Ruiz-Sala, Pedro, Artuch, Rafael
Published in Antioxidants (10.03.2022)
Published in Antioxidants (10.03.2022)
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Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data
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
Published in Metabolites (07.01.2023)
Published in Metabolites (07.01.2023)
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Journal Article
Rapid Ultraperformance Liquid Chromatography― Tandem Mass Spectrometry Assay for a Characteristic Glycogen-Derived Tetrasaccharide in Pompe Disease and Other Glycogen Storage Diseases
SLUITER, Wim, VAN DEN BOSCH, Jeroen C, GOUDRIAAN, Daphne A, GELDER, Carin M. Van, VRIES, Juna M. De, HUIJMANS, Jan G. M, REUSER, Arnold J. J, VAN DER PLOEG, Ans T, RUIJTER, George J. G
Published in Clinical chemistry (Baltimore, Md.) (01.07.2012)
Published in Clinical chemistry (Baltimore, Md.) (01.07.2012)
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Journal Article
Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism
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
Published in Metabolites (25.12.2020)
Published in Metabolites (25.12.2020)
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Journal Article
Selection and characterisation of a xylitol-derepressed Aspergillus niger mutant that is apparently impaired in xylitol transport
Vondervoort, Peter J. I. van de, Groot, Marco J. L. de, Ruijter, George J. G, Visser, Jaap
Published in Applied microbiology and biotechnology (01.12.2006)
Published in Applied microbiology and biotechnology (01.12.2006)
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Journal Article
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity
Hagemeijer, Marne C., Oussoren, Esmee, Ruijter, George J. G., Onkenhout, Willem, Huidekoper, Hidde H., Ebberink, Merel S., Waterham, Hans R., Ferdinandusse, Sacha, Vries, Maaike C., Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Coene, Karlien L. M., Blom, Henk J
Published in JIMD reports (01.09.2021)
Published in JIMD reports (01.09.2021)
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Journal Article
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
Wamelink, Mirjam M. C., Ramos, Ruben J. J. F., van den Elzen, Annette P. M., Ruijter, George J. G., Bonte, Ramon, Diogo, Luisa, Garcia, Paula, Neves, Nelson, Nota, Benjamin, Haschemi, Arvand, Tavares de Almeida, Isabel, Salomons, Gajja S.
Published in Journal of inherited metabolic disease (01.09.2015)
Published in Journal of inherited metabolic disease (01.09.2015)
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Journal Article
Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation
Coene, Karlien L. M., Timmer, Corrie, Goorden, Susan M. I., Hoedt, Amber E., Kluijtmans, Leo A. J., Janssen, Mirian C. H., Rennings, Alexander J. M., Prinsen, Hubertus C. M. T., Wamelink, Mirjam M. C., Ruijter, George J. G., Körver‐Keularts, Irene M. L. W., Heiner‐Fokkema, M. Rebecca, Spronsen, Francjan J., Hollak, Carla E., Vaz, Frédéric M., Bosch, Annet M., Huigen, Marleen C. D. G.
Published in JIMD reports (01.03.2021)
Published in JIMD reports (01.03.2021)
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