Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry von Prinsen, Hubertus C. M. T., Schiebergen-Bronkhorst, B. G. M., Roeleveld, M. W., Jans, J. J. M., de Sain-van der Velden, M. G. M., Visser, G., van Hasselt, P. M., Verhoeven-Duif, N. M.

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Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy von Rumping, Lynne, Büttner, Benjamin, Maier, Oliver, Rehmann, Holger, Lequin, Maarten, Schlump, Jan-Ulrich, Schmitt, Bernhard, Schiebergen-Bronkhorst, Birgit, Prinsen, Hubertus C. M. T, Losa, Michele, Fingerhut, Ralph, Lemke, Johannes R, Zwartkruis, Fried J. T, Houwen, Roderick H. J, Jans, Judith J. M, Verhoeven-Duif, Nanda M, van Hasselt, Peter M, Jamra, Rami

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Farnesoid X Receptor Activation Promotes Hepatic Amino Acid Catabolism and Ammonium Clearance in Mice von Massafra, Vittoria, Milona, Alexandra, Vos, Harmjan R, Ramos, Rúben J.J, Gerrits, Johan, Willemsen, Ellen C.L, Ramos Pittol, José M, Ijssennagger, Noortje, Houweling, Martin, Prinsen, Hubertus C.M.T, Verhoeven-Duif, Nanda M, Burgering, Boudewijn M, van Mil, Saskia W.C

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Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma von Haijes, Hanneke A, Willemsen, Marcel, Van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L, Prinsen, Hubertus C M T, Van Hasselt, Peter M, De Sain-van der Velden, Monique G M, Verhoeven-Duif, Nanda M, Jans, Judith J M

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Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone von Bendadi, Fatiha, de Koning, Tom J, Visser, Gepke, Prinsen, Hubertus C.M.T, de Sain, Monique G.M, Verhoeven-Duif, Nanda, Sinnema, Gerben, van Spronsen, Francjan J, van Hasselt, Peter M

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Transmission of Integrated Human Herpesvirus 6 through Stem Cell Transplantation: Implications for Laboratory Diagnosis von Clark, Duncan A., Nacheva, Elisabeth P., Leong, Hoe Nam, Brazma, Diana, Li, Ying Ting, Tsao, Edward H. F., Buyck, Hubertus C. E., Atkinson, Claire E., Lawson, Heather M., Potter, Michael N., Griffiths, Paul D.

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Quantification of metabolites in dried blood spots by direct infusion high resolution mass spectrometry von de Sain-van der Velden, Monique G.M., van der Ham, Maria, Gerrits, Johan, Prinsen, Hubertus C.M.T., Willemsen, Marcel, Pras-Raves, Mia L., Jans, Judith J., Verhoeven-Duif, Nanda M.

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Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation von Haijes, Hanneke A., de Sain-van der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D.M., Selby, Kathryn A., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J.M.

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Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm von Haijes, Hanneke A., van der Ham, Maria, Prinsen, Hubertus C. M. T., Broeks, Melissa H., van Hasselt, Peter M., de Sain-van der Velden, Monique G. M., Verhoeven-Duif, Nanda M., Jans, Judith J. M.

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Key features and clinical variability of COG6-CDG von Rymen, Daisy, Winter, Julia, Van Hasselt, Peter M., Jaeken, Jaak, Kasapkara, Cigdem, Gokçay, Gulden, Haijes, Hanneke, Goyens, Philippe, Tokatli, Aysegul, Thiel, Christian, Bartsch, Oliver, Hecht, Jochen, Krawitz, Peter, Prinsen, Hubertus C.M.T., Mildenberger, Eva, Matthijs, Gert, Kornak, Uwe

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Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics von Kerkhofs, Marten H. P. M., Haijes, Hanneke A., Willemsen, A. Marcel, van Gassen, Koen L. I., van der Ham, Maria, Gerrits, Johan, de Sain-van der Velden, Monique G. M., Prinsen, Hubertus C. M. T., van Deutekom, Hanneke W. M., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J. M.

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GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay von Rumping, Lynne, Tessadori, Federico, Pouwels, Petra J W, Vringer, Esmee, Wijnen, Jannie P, Bhogal, Alex A, Savelberg, Sanne M C, Duran, Karen J, Bakkers, Mark J G, Ramos, Rúben J J, Schellekens, Peter A W, Kroes, Hester Y, Klomp, Dennis W J, Black, Graeme C M, Taylor, Rachel L, Bakkers, Jeroen P W, Prinsen, Hubertus C M T, van der Knaap, Marjo S, Dansen, Tobias B, Rehmann, Holger, Zwartkruis, Fried J T, Houwen, Roderick H J, van Haaften, Gijs, Verhoeven-Duif, Nanda M, Jans, Judith J M, van Hasselt, Peter M

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Human cytomegalovirus (HCMV) replication kinetics in stem cell transplant recipients following anti-HCMV therapy von Buyck, Hubertus C.E, Griffiths, Paul D, Emery, Vincent C

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A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy von Rumping, Lynne, Pouwels, Petra J. W., Wolf, Nicole I., Rehmann, Holger, Wamelink, Mirjam M. C., Waisfisz, Quinten, Jans, Judith J. M., Prinsen, Hubertus C. M. T., Kamp, Jiddeke M., Hasselt, Peter M.

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Development of psychopathology in deployed armed forces in relation to plasma GABA levels von Schür, Remmelt R., MD, Boks, Marco P., MD, PhD, Geuze, Elbert, PhD, Prinsen, Hubertus C., PhD, Verhoeven-Duif, Nanda M., PhD, Joëls, Marian, PhD, Kahn, René S., MD, PhD, Vermetten, Eric, MD, PhD, Vinkers, Christiaan H., MD, PhD

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Addition of PEG-interferon to long-term nucleos(t)ide analogue therapy enhances HBsAg decline and clearance in HBeAg-negative chronic hepatitis B: Multicentre Randomized Trial (PAS... von Farag, Mina S, van Campenhout, Margo J H, Sonneveld, M J, Fung, Scott, van Erpecum, Karel J, Wong, David K, Verhey, Elke, de Man, Robert, De Knegt, Robert J, Brouwer, Johannes T, Baak, Hubertus C, Feld, Jordan J, Liem, Kin Seng, Boonstra, André, Hansen, Bettina E, Janssen, Harry L A

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Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid von Haijes, Hanneke A., van der Ham, Maria, Gerrits, Johan, van Hasselt, Peter M., Prinsen, Hubertus C.M.T., de Sain-van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., Jans, Judith J.M.

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A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases von Willems, Anke P., van der Ham, Maria, Schiebergen-Bronkhorst, Birgit G. M., van Aalderen, Mirjam, de Barse, Martina M. J., De Gruyter, Fini E., van Hoek, Ilja N., Pras-Raves, Mia L., de Sain-van der Velden, Monique G. M., Prinsen, Hubertus C. M. T., Verhoeven-Duif, Nanda M., Jans, Judith J. M.

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AMZ Driverless: The full autonomous racing system von Kabzan, Juraj, Valls, Miguel I., Reijgwart, Victor J. F., Hendrikx, Hubertus F. C., Ehmke, Claas, Prajapat, Manish, Bühler, Andreas, Gosala, Nikhil, Gupta, Mehak, Sivanesan, Ramya, Dhall, Ankit, Chisari, Eugenio, Karnchanachari, Napat, Brits, Sonja, Dangel, Manuel, Sa, Inkyu, Dubé, Renaud, Gawel, Abel, Pfeiffer, Mark, Liniger, Alexander, Lygeros, John, Siegwart, Roland

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Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots von de Sain-van der Velden, Monique G.M., van der Ham, Maria, Jans, Judith J., Visser, Gepke, van Hasselt, Peter M., Prinsen, Hubertus C.M.T., Verhoeven-Duif, Nanda M.

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