Inborn errors of enzymes in glutamate metabolism

por Rumping, Lynne, Vringer, Esmee, Houwen, Roderick H. J., van Hasselt, Peter M., Jans, Judith J. M., Verhoeven‐Duif, Nanda M.
Publicado 2019

Inborn disorders of the malate aspartate shuttle

por Broeks, Melissa H., van Karnebeek, Clara D. M., Wanders, Ronald J. A., Jans, Judith J. M., Verhoeven‐Duif, Nanda M.
Publicado 2021

Focal epilepsy with fear‐related behavior as primary presentation in Boerboel dogs

por Stassen, Quirine E. M., Grinwis, Guy C. M., van Rhijn, Nieke C., Beukers, Martjin, Verhoeven‐Duif, Nanda M., Leegwater, Peter A. J.
Publicado 2018

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

por Olde Loohuis, Loes M., Albersen, Monique, de Jong, Simone, Wu, Timothy, Luykx, Jurjen J., Jans, Judith J. M., Verhoeven-Duif, Nanda M., Ophoff, Roel A.
Publicado 2018

Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics

por Haijes, Hanneke A., Willemse, Eline A.J., Gerrits, Johan, van der Flier, Wiesje M., Teunissen, Charlotte E., Verhoeven-Duif, Nanda M., Jans, Judith J.M.
Publicado 2019

Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome

por Korteling, Dorinde, Boks, Marco P., Fiksinski, Ania M., van Hoek, Ilja N., Vorstman, Jacob A. S., Verhoeven-Duif, Nanda M., Jans, Judith J. M., Zinkstok, Janneke R.
Publicado 2022

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

por Haijes, H.A., Prinsen, Hubertus C.M.T., de Sain-van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., van Hasselt, Peter M., Jans, Judith J.M.
Publicado 2019

Vitamin B6 in Plasma and Cerebrospinal Fluid of Children

por Albersen, Monique, Bosma, Marjolein, Jans, Judith J. M., Hofstede, Floris C., van Hasselt, Peter M., de Sain-van der Velden, Monique G. M., Visser, Gepke, Verhoeven-Duif, Nanda M.
Publicado 2015

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia

por van Dooijeweert, Birgit, Broeks, Melissa H., van Beers, Eduard J., Verhoeven‐Duif, Nanda M., van Solinge, Wouter W., Nieuwenhuis, Edward E. S., Jans, Judith J., van Wijk, Richard, Bartels, Marije
Publicado 2021

Fatal cerebral edema associated with serine deficiency in CSF

por Keularts, Irene M. L. W., Leroy, Piet L. J. M., Rubio-Gozalbo, Estela M., Spaapen, Leo J. M., Weber, Biene, Dorland, Bert, de Koning, Tom J., Verhoeven-Duif, Nanda M.
Publicado 2010

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

por van Dooijeweert, Birgit, Broeks, Melissa H., Verhoeven-Duif, Nanda M., van Beers, Eduard J., Nieuwenhuis, Edward E.S., van Solinge, Wouter W., Bartels, Marije, Jans, Judith J.M., van Wijk, Richard
Publicado 2020

The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism: A Caco-2 Cell Model

por Albersen, Monique, Bosma, Marjolein, Knoers, Nine V. V. A. M., de Ruiter, Berna H. B., Diekman, Eugène F., de Ruijter, Jessica, Visser, Wouter F., de Koning, Tom J., Verhoeven-Duif, Nanda M.
Publicado 2013

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm

por 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.
Publicado 2020

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome

por Weuring, Wout J., Singh, Sakshi, Volkers, Linda, Rook, Martin B., van ‘t Slot, Ruben H., Bosma, Marjolein, Inserra, Marco, Vetter, Irina, Verhoeven-Duif, Nanda M., Braun, Kees P. J., Rivara, Mirko, Koeleman, Bobby P. C.
Publicado 2020

Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity

por van Dooijeweert, Birgit, Broeks, Melissa H., Verhoeven-Duif, Nanda M., van Solinge, Wouter W., van Beers, Eduard J., Rab, Minke A. E., Nieuwenhuis, Edward E. S., Jans, Judith J. M., Bartels, Marije, van Wijk, Richard
Publicado 2021

Maintenance of cellular vitamin B(6) levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein

por Ciapaite, Jolita, van Roermund, Carlo W.T., Bosma, Marjolein, Gerrits, Johan, Houten, Sander M., IJlst, Lodewijk, Waterham, Hans R., van Karnebeek, Clara D.M., Wanders, Ronald J.A., Zwartkruis, Fried J.T., Jans, Judith J., Verhoeven-Duif, Nanda M.
Publicado 2023

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma

por 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.
Publicado 2019

Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics

por 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.
Publicado 2020

A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

por 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.
Publicado 2023

The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

por Lehmann, Vivian, Schene, Imre F., Ardisasmita, Arif I., Liv, Nalan, Veenendaal, Tineke, Klumperman, Judith, van der Doef, Hubert P. J., Verkade, Henkjan J., Verstegen, Monique M. A., van der Laan, Luc J. W., Jans, Judith J. M., Verhoeven‐Duif, Nanda M., van Hasselt, Peter M., Nieuwenhuis, Edward E. S., Spee, Bart, Fuchs, Sabine A.
Publicado 2021