The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma

by Loes M. Loohuis, Monique Albersen, Simone de Jong, Timothy Wu, Jurjen J. Luykx, Judith J. M. Jans, Nanda M. Verhoeven-Duif, Roel A. Ophoff
Published 2018-12-01

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
Published 2019-10-01

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
Published 2020-03-01

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
Published 2015-01-01

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
Published 2013-01-01

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
Published 2020-02-01

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
Published 2020-01-01

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
Published 2021-07-01

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
Published 2019-01-01

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
Published 2020-05-01

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
Published 2019-04-01