The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases

por Mathis, Déborah, Croft, Joanne, Chrastina, Petr, Fowler, Brian, Vianey‐Saban, Christine, Ruijter, George J. G.
Publicado 2022

Associations of maternal and infant metabolite profiles with foetal growth and the odds of adverse birth outcomes

por Voerman, Ellis, Jaddoe, Vincent W. V., Shokry, Engy, Ruijter, George J. G., Felix, Janine F., Koletzko, Berthold, Gaillard, Romy
Publicado 2021

Technical Aspects of Coenzyme Q(10) Analysis: Validation of a New HPLC-ED Method

por Paredes-Fuentes, Abraham J., Oliva, Clara, Montero, Raquel, Alcaide, Patricia, Ruijter, George J. G., García-Villoria, Judit, Ruiz-Sala, Pedro, Artuch, Rafael
Publicado 2022

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS

por van den Bosch, Jeroen, Oemardien, Linda F., Srebniak, Malgorzata I., Piraud, Monique, Huijmans, Jan G. M., Verheijen, Frans W., Ruijter, George J. G.
Publicado 2011

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

por 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.
Publicado 2019

Maternal Body Mass Index, Early-Pregnancy Metabolite Profile, and Birthweight

por 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
Publicado 2021

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

por Malekkou, Anna, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Sismani, Carolina, Jacobs, Edwin H., Ruijter, George J.G., Anastasiadou, Violetta, Ourani, Sofia, Athanasiou, Emilia, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P.
Publicado 2023

Associations of maternal bisphenol urine concentrations during pregnancy with neonatal metabolomic profiles

por 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
Publicado 2021

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

por 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.
Publicado 2023

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

por Langereis, Eveline J., Wagemans, Tom, Kulik, Wim, Lefeber, Dirk J., van Lenthe, Henk, Oussoren, Esmee, van der Ploeg, Ans T., Ruijter, George J., Wevers, Ron A., Wijburg, Frits A., van Vlies, Naomi
Publicado 2015

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

por Brands, Marion M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Nobel, Willemieke, Ruijter, George J, Özkan, Lale, Plug, Iris, Grinberg, Daniel, Vilageliu, Lluïsa, Halley, Dicky J, Ploeg, Ans T van der, Reuser, Arnold J
Publicado 2013

Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood

por 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
Publicado 2023

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development

por Kuil, Laura E., López Martí, Anna, Carreras Mascaro, Ana, van den Bosch, Jeroen C., van den Berg, Paul, van der Linde, Herma C., Schoonderwoerd, Kees, Ruijter, George J. G., van Ham, Tjakko J.
Publicado 2019

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

por 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.
Publicado 2020

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

por Williams, Monique, Burlina, Alberto, Rubert, Laura, Polo, Giulia, Ruijter, George J. G., van den Born, Myrthe, Rüfenacht, Véronique, Haskins, Nantaporn, van Zutven, Laura J. C. M., Tuchman, Mendel, Saris, Jasper J., Häberle, Johannes, Caldovic, Ljubica
Publicado 2018

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

por 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.
Publicado 2015

Mucolipidosis type III, a series of adult patients

por Oussoren, Esmee, van Eerd, David, Murphy, Elaine, Lachmann, Robin, van der Meijden, Jan C., Hoefsloot, Lies H., Verdijk, Rob, Ruijter, George J. G., Maas, Mario, Hollak, Carla E. M., Langendonk, Janneke G., van der Ploeg, Ans T., Langeveld, Mirjam
Publicado 2018

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

por Hagemeijer, Marne C., Oussoren, Esmee, Ruijter, George J. G., Onkenhout, Willem, Huidekoper, Hidde H., Ebberink, Merel S., Waterham, Hans R., Ferdinandusse, Sacha, de Vries, Maaike C., Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Coene, Karlien L. M., Blom, Henk J
Publicado 2021

Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

por Oussoren, Esmee, Mathijssen, Irene M. J., Wagenmakers, Margreet, Verdijk, Rob M., Bredero-Boelhouwer, Hansje H., van Veelen-Vincent, Marie-Lise C., van der Meijden, Jan C., van den Hout, Johanna M. P., Ruijter, George J. G., van der Ploeg, Ans T., Langeveld, Mirjam
Publicado 2018

Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II

por Catalano, Fabio, Vlaar, Eva C., Katsavelis, Drosos, Dammou, Zina, Huizer, Tessa F., van den Bosch, Jeroen C., Hoogeveen-Westerveld, Marianne, van den Hout, Hannerieke J.M.P., Oussoren, Esmeralda, Ruijter, George J.G., Schaaf, Gerben, Pike-Overzet, Karin, Staal, Frank J.T., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2023