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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Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation von Lübbehusen, Jürgen, Thiel, Christian, Rind, Nina, Ungar, Daniel, Prinsen, Berthil H.C.M.T., de Koning, Tom J., van Hasselt, Peter M., Körner, Christian

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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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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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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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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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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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Bone Marrow Function After (131)I Therapy in Patients With Differentiated Thyroid Carcinoma von Prinsen, Hester T, Klein Hesselink, Esther N, Brouwers, Adrienne H, Plukker, John T M, Sluiter, Wim J, van der Horst-Schrivers, Anouk N A, van Imhoff, Gustaaf W, Links, Thera P

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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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Liquid chromatography–tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid von van der Ham, Maria, de Koning, Tom J., Lefeber, Dirk, Fleer, André, Prinsen, Berthil H.C.M.T., de Sain-van der Velden, Monique G.M.

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Variation of milk components in the Italian Brown cattle von Frigo, Erika, Samorè, Antonia B, Reghenzani, Liliana, Bergomi, Nicola, Strillacci, Maria G, Schiavini, Fausta, Prinsen, Raphaelle TMM, Cozzi, Maria C, Serra, Marco, Rossoni, Attilio, Bagnato, Alessandro

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Increased albumin and fibrinogen synthesis rate in patients with chronic renal failure von Prinsen, Berthil H.C.M.T., Rabelink, Ton J., Beutler, Jaap J., Kaysen, George A., De Boer, Jose, Boer, Walther H., Hagen, E. Christiaan, Berger, Ruud, De Sain-Van Der Velden, Monique G.M.

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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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A broad-based metabolic approach to study VLDL apoB100 metabolism in patients with ESRD and patients treated with peritoneal dialysis von Prinsen, Berthil H.C.M.T., Rabelink, Ton J., Romijn, Johannes A., Bisschop, Peter H., de Barse, Martina M.J., de Boer, José, van Haeften, Timon W., Barrett, P. Hugh R., Berger, Ruud, de Sain-van der Velden, Monique G.M.

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Quantification of free and total sialic acid excretion by LC–MS/MS von van der Ham, Maria, Prinsen, Berthil H.C.M.T., Huijmans, Jan G.M., Abeling, Nicolaas G.G.M., Dorland, Bert, Berger, Ruud, de Koning, Tom J., de Sain-van der Velden, Monique G.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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Evaluation of PEG-L-asparaginase in asparagine suppression and anti-drug antibody development in healthy Beagle dogs: A multi-phase preclinical study von Feenstra, L.R., Gehring, R., van Geijlswijk, I.M., König, T., Prinsen, H.C.M.T., Vandemeulebroecke, K., Lammens, T., Krupa, A., Teske, E.

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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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