Sanfilippo syndrome: A mini-review von Valstar, M. J., Ruijter, G. J. G., van Diggelen, O. P., Poorthuis, B. J., Wijburg, F. A.

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

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Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria von 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.

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Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality as... von Oliva, Clara, Arias, Angela, Ruiz-Sala, Pedro, Garcia-Villoria, Judit, Carling, Rachel, Bierau, Jörgen, Ruijter, George J. G., Casado, Mercedes, Ormazabal, Aida, Artuch, Rafael

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Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations von 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.

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Polyol accumulation by Aspergillus oryzae at low water activity in solid-state fermentation von Ruijter, George J. G, Visser, Jaap, Rinzema, Arjen

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Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS von van den Bosch, Jeroen, Oemardien, Linda F., Srebniak, Malgorzata I., Piraud, Monique, Huijmans, Jan G. M., Verheijen, Frans W., Ruijter, George J. G.

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Rapid Ultraperformance Liquid Chromatography― Tandem Mass Spectrometry Assay for a Characteristic Glycogen-Derived Tetrasaccharide in Pompe Disease and Other Glycogen Storage Disea... von 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

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Mannitol Is Required for Stress Tolerance in Aspergillus niger Conidiospores von Ruijter, George J G, Bax, Maarten, Patel, Hema, Flitter, Simon J, van de Vondervoort, Peter J I, de Vries, Ronald P, vanKuyk, Patricia A, Visser, Jaap

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Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation von 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.

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Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands von Ruijter, G.J.G., Valstar, M.J., van de Kamp, J.M., van der Helm, R.M., Durand, S., van Diggelen, O.P., Wevers, R.A., Poorthuis, B.J., Pshezhetsky, A.V., Wijburg, F.A.

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Congenital Disorder of Glycosylation type Ia presenting with hydrops fetalis von van de Kamp, Jiddeke Matuja, Lefeber, Dirk J, Ruijter, George JG, Steggerda, Sylke J, den Hollander, Nicolette S, Willems, Stefan M, Matthijs, Gert, Poorthuis, Ben JHM, Wevers, Ron A

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Up to five years experience with 11 mucopolysaccharidosis type VI patients von Brands, Marion M.M.G., Oussoren, Esmee, Ruijter, George J.G., Vollebregt, Audrey A.M., van den Hout, Hannerieke M.P., Joosten, Koen F.M., Hop, Wim C.J., Plug, Iris, van der Ploeg, Ans T.

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Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB von Meijer, O. L. M., Welling, L., Valstar, M. J., Hoefsloot, L. H., Brüggenwirth, H. T., van der Ploeg, A. T., Ruijter, G. J. G., Wagemans, T., Wijburg, F. A., van Vlies, N.

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The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases von Mathis, Déborah, Croft, Joanne, Chrastina, Petr, Fowler, Brian, Vianey‐Saban, Christine, Ruijter, George J. G.

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

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Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage von Rutten, Julie W., Cerfontaine, Minne N., Dijkstra, Kyra L., Mulder, Aat A., Vreijling, Jeroen, Kruit, Mark, Koning, Roman I., de Bot, Susanne T., van Nieuwenhuizen, Koen M., Baelde, Hans J., Berendse, Henk W., Mei, Leon H., Ruijter, George J.G., Baas, Frank, Jost, Carolina R., van Duinen, Sjoerd G., Nibbeling, Esther A.R., Gravesteijn, Gido, Lesnik Oberstein, Saskia A.J.

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Gastrointestinal Biomarkers and Their Association with Feeding in the First Five Days of Pediatric Critical Illness von Veldscholte, Karlien, Hulst, Jessie M., Eveleens, Renate D., Jonge, Rogier C.J., Koning, Barbara A.E., Berg, Sjoerd A.A., Wal, Ronald, Ruijter, George J.G., Rizopoulos, Dimitris, Vanhorebeek, Ilse, Gunst, Jan, Casaer, Michaël, Van den Berghe, Greet, Joosten, Koen F.M., Verbruggen, Sascha C.A.T.

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Associations of maternal and infant metabolite profiles with foetal growth and the odds of adverse birth outcomes von Voerman, Ellis, Jaddoe, Vincent W. V., Shokry, Engy, Ruijter, George J. G., Felix, Janine F., Koletzko, Berthold, Gaillard, Romy

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Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots von Oemardien, L.F., Boer, A.M., Ruijter, G.J.G., van der Ploeg, A.T., de Klerk, J.B.C., Reuser, A.J.J., Verheijen, F.W.

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