Metabolic Alterations in NADSYN1-Deficient Cells by Nils W. F. Meijer, Johan Gerrits, Susan Zwakenberg, Fried J. T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J. M. Jans

Get full text

Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics by Hanneke A. Haijes, Eline A.J. Willemse, Johan Gerrits, Wiesje M. van der Flier, Charlotte E. Teunissen, Nanda M. Verhoeven-Duif, Judith J.M. Jans

Get full text

Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome by Dorinde Korteling, Marco P. Boks, Ania M. Fiksinski, Ilja N. van Hoek, Jacob A. S. Vorstman, Nanda M. Verhoeven-Duif, Judith J. M. Jans, Janneke R. Zinkstok

Get full text

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio by H.A. Haijes, Hubertus C.M.T. Prinsen, Monique G.M. de Sain-van der Velden, Nanda M. Verhoeven-Duif, Peter M. van Hasselt, Judith J.M. Jans

Get full text

Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes by Nils W. F. Meijer, Susan Zwakenberg, Johan Gerrits, Denise Westland, Arif I. Ardisasmita, Sabine A. Fuchs, Nanda M. Verhoeven-Duif, Judith J. M. Jans, Fried J. T. Zwartkruis

Get full text

Vitamin B6 in plasma and cerebrospinal fluid of children. by Monique Albersen, Marjolein Bosma, Judith J M Jans, Floris C Hofstede, Peter M van Hasselt, Monique G M de Sain-van der Velden, Gepke Visser, Nanda M Verhoeven-Duif

Get full text

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency by Birgit van Dooijeweert, Melissa H. Broeks, Nanda M. Verhoeven-Duif, Eduard J. van Beers, Edward E.S. Nieuwenhuis, Wouter W. van Solinge, Marije Bartels, Judith J. Jans, Richard van Wijk

Get full text

The intestine plays a substantial role in human vitamin B6 metabolism: a Caco-2 cell model. by Monique Albersen, Marjolein Bosma, Nine V V A M Knoers, Berna H B de Ruiter, Eugène F Diekman, Jessica de Ruijter, Wouter F Visser, Tom J de Koning, Nanda M Verhoeven-Duif

Get full text

Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity by Birgit van Dooijeweert, Melissa H. Broeks, Nanda M. Verhoeven-Duif, Wouter W. van Solinge, Eduard J. van Beers, Minke A. E. Rab, Edward E. S. Nieuwenhuis, Judith J. M. Jans, Marije Bartels, Richard van Wijk

Get full text

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

Get full text

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome. by Wout J Weuring, Sakshi Singh, Linda Volkers, Martin B Rook, Ruben H van 't Slot, Marjolein Bosma, Marco Inserra, Irina Vetter, Nanda M Verhoeven-Duif, Kees P J Braun, Mirko Rivara, Bobby P C Koeleman

Get full text

The malate-aspartate shuttle is important for de novo serine biosynthesis by Melissa H. Broeks, Nils W.F. Meijer, Denise Westland, Marjolein Bosma, Johan Gerrits, Hannah M. German, Jolita Ciapaite, Clara D.M. van Karnebeek, Ronald J.A. Wanders, Fried J.T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J.M. Jans

Get full text

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

Get full text

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

Get full text

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

Get full text

Identification of human D lactate dehydrogenase deficiency by Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M. C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì, Paolo Bosco, Karin Geleijns, Monique G. M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften, Judith J. Jans

Get full text