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

MetaboShiny: interactive analysis and metabolite annotation of mass spectrometry-based metabolomics data

por Wolthuis, Joanna C., Magnusdottir, Stefania, Pras-Raves, Mia, Moshiri, Maryam, Jans, Judith J. M., Burgering, Boudewijn, van Mil, Saskia, de Ridder, Jeroen
Publicado 2020

Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts

por van Albada, Mirjam E., Shah, Pratik, Derks, Terry G. J., Fuchs, Sabine, Jans, Judith J. M., McLin, Valérie, van der Doef, Hubert P. J.
Publicado 2023

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

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

por Achleitner, Melanie T., Jans, Judith J. M., Ebner, Laura, Spenger, Johannes, Konstantopoulou, Vassiliki, Feichtinger, René G., Brugger, Karin, Mayr, Doris, Wevers, Ron A., Thiel, Christian, Wortmann, Saskia B., Mayr, Johannes A.
Publicado 2023

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

Metabolomics in Severe Aortic Stenosis Reveals Intermediates of Nitric Oxide Synthesis as Most Distinctive Markers

por van Driel, Beau Olivier, Schuldt, Maike, Algül, Sila, Levin, Evgeni, Güclü, Ahmet, Germans, Tjeerd, van Rossum, Albert C., Pei, Jiayi, Harakalova, Magdalena, Baas, Annette, Jans, Judith J. M., van der Velden, Jolanda
Publicado 2021

Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling

por Claesen, Joep L. A., Koomen, Erik, Schene, Imre F., Jans, Judith J. M., Mast, Natalia, Pikuleva, Irina A., van der Ham, Maria, de Sain‐van der Velden, Monique G. M., Fuchs, Sabine A.
Publicado 2020

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

por 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., van de Kamp, Jiddeke M., van Hasselt, Peter M.
Publicado 2023

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

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

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

Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy

por Schuldt, Maike, van Driel, Beau, Algül, Sila, Parbhudayal, Rahana Y., Barge-Schaapveld, Daniela Q. C. M., Güçlü, Ahmet, Jansen, Mark, Michels, Michelle, Baas, Annette F., van de Wiel, Mark A., Nieuwdorp, Max, Levin, Evgeni, Germans, Tjeerd, Jans, Judith J. M., van der Velden, Jolanda
Publicado 2021

Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review

por van Dijk, Myrthe J., van Oirschot, Brigitte A., Stam‐Slob, Manon C., Waanders, Esmé, van der Zwaag, Bert, van Beers, Eduard J., Jans, Judith J. M., van der Linden, Peter Willem, Torregrosa Diaz, Jose M., Gardie, Betty, Girodon, François, Schots, Rik, Thielen, Noortje, van Wijk, Richard
Publicado 2022

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