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J

Judith Jans

Utrecht University

36H-index
159Paper Count
3.9KCitation Count
Published Papers 74
Publication Date
Undetectable Hydroxyurea Levels in the Majority of Sickle Cell Disease Patients, Especially in Young Children
err2026-07-03
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errSigrid van der Veen; Bart J. Biemond; Marjon H. Cnossen; Pablo Bartolucci; Maria P. Boaro; Betzabel Cajiao Garcia; Raffaella Colombatti; M. D'Agnolo; Karin Fijnvandraat; Anna Collado Gimbert; Amira Idrizovic; Petros Kountouris; Mar Mañú-Pereira; Elisabetta Mezzalira; Mariane de Montalembert; Erfan Nur; A. Pham Hung D' Alexandry D'Orengiani; Tiziana Sanavia; Saskia E. M. Schols; Marissa J. M. Traets; Minke A. E. Rab; Sara I. Reidel; Anita W. Rijneveld; Yosr Zaouali; Nanda M. Verhoeven-Duif; Judith J. M. Jans; Eduard J. van Beers
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Univariate- and machine learning-based plasma metabolite signature differentiates PSC-IBD from IBD and is predicted to be driven by gut microbial changes
err2026-03-28
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errWolthuis, Joanna C.; Schultheiss, Johannes P. D.; Magnusdottir, Stefania; Stigter, Edwin; Tang, Yuen Fung; Jans, Judith; Oldenburg, Bas; De Ridder, Jeroen; Van Mil, Saskia
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Pyrin Inflammasome Activation Triggers an IL-18-Driven IFNγ Response in Mevalonate Kinase Deficiency
err2026-03-09
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errNiels S. van Heusden; Isa Cuijpers; Nils Meijer; Daan Pieren; Angela Markovska; Cem Gabay; Charlotte Girard; Isabelle Koné-Paut; Bas Vastert; Dörte Hamann; Judith Jans; Erika Van Nieuwenhove; Joost Frenkel; Marianne Boes
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NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis
errBlood
IF23.1
err2025-10-21
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PREAI
errTitine J.J. Ruiter; Brigitte A. van Oirschot; Esmé Waanders; Klaas Koop; Wouter W. van Solinge; Richard van Wijk; Judith J.M. Jans; Marije Bartels
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Comprehensive Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency: A Progressive Neurodevelopmental Disorder with Epilepsy and Abnormal Movements
err2025-09-23
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PREAI
errHannah M. German; Maha S. Zaki; Muhammad A. Usmani; Irem Karagoz; Stephanie Efthymiou; Mohamed S. Abdel-Hamid; Haya Abdelhafez Arabiyat; Amama Ghaffar; Mohsin Shahzad; Hans van Bokhoven; Zubair M. Ahmed; Omid Yaghini; Neda Hosseini; Maede Majidinezhad; Shahryar Alavi; Marjolein Bosma; Melissa H. Broeks; Dilşad Türdoğan; Mohnish Suri; Laiz Laura de Godoy; Nanda M. Verhoeven-Duif; Sheikh Riazuddin; Joseph G. Gleeson; Cesar Alves; Judith J.M. Jans; Saima Riazuddin; Henry Houlden; Reza Maroofian
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Metabolomics in sickle cell disease: Current knowledge and gaps – A scoping review
err2025-09-06
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PREAI
errSigrid van der Veen; Judith J.M. Jans; Eduard J. van Beers; Bart J. Biemond; Pablo Bartolucci; Maria Paola Boaro; Anna Collado Gimbert; Raffaella Colombatti; Mirco D'Agnolo; Karin J. Fijnvandraat; Amira Idrizovic; Petros Kountouris; Mar Mañú Pereira; Elisabetta Mezzalira; Minke A.E. Rab; Anita W. Rijneveld; Tiziana Sanavia; Nanda M. Verhoeven-Duif; Marjon H. Cnossen
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Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS
err2025-05-01
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errvan der Ham, Maria; van Konijnenburg, Eva Hoytema; van Rossum, Wouter; Gerrits, Johan; van Hasselt, Peter; Prinsen, Hubertus; Jans, Judith; Schlotawa, Lars; Laugwitz, Lucia; de Sain-van der Velden, Monique
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Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency)
err2025-04-01
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errCiapaite, Jolita; Albersen, Monique; Savelberg, Sanne M. C.; Bosma, Marjolein; Meijer, Nils W. F.; Tessadori, Federico; Bakkers, Jeroen P. W.; van Haaften, Gijs; Jans, Judith J.; Verhoeven-Duif, Nanda M.
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Anaplerosis by medium-chain fatty acids through complex interplay with glucose and glutamine metabolism
err2025-02-01
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errGerman, Hannah M.; Ciapaite, Jolita; Verhoeven-Duif, Nanda M.; Jans, Judith J. M.
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Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation
err2024-12-09
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errKok, Gautam; Schene, Imre F.; Ilcken, Eveline F.; Alcaraz, Paula Sobrevals; Mendes, Marisa, I; Smith, Desiree E. C.; Salomons, Gajja; Shehata, Sawsan; Jans, Judith J. M.; Maroofian, Reza; Hoek, Tim A.; van Es, Robert M.; Rehmann, Holger; Nieuwenhuis, Edward E. S.; Vos, Harmjan R.; Fuchs, Sabine A.
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Ex Vivo G lucose Tracing in Red Blood Cells from Patients with Hereditary Xerocytosis Reveals Enhanced Glycolytic Flux
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IF23.1
err2024-11-05
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PREAI
errRuiter, Titine J. J.; De Wilde, Jonathan R. A.; van Oirschot, Brigitte A.; van Solinge, Wouter W.; Rab, Minke A. E.; van Wijk, Richard; Jans, Judith J. M.
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mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes
err2024-11-01
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errZwakenberg, Susan; Westland, Denise; van Es, Robert M.; Rehmann, Holger; Anink, Jasper; Ciapaite, Jolita; Bosma, Marjolein; Stelloo, Ellen; Liv, Nalan; Alcaraz, Paula Sobrevals; Verhoeven-Duif, Nanda M.; Jans, Judith J. M.; Vos, Harmjan R.; Aronica, Eleonora; Zwartkruis, Fried J. T.
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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases
err2024-09-27
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errvan Karnebeek, Clara D. M.; O'Donnell-Luria, Anne; Baynam, Gareth; Baudot, Anais; Groza, Tudor; Jans, Judith J. M.; Lassmann, Timo; Letinturier, Mary Catherine V.; Montgomery, Stephen B.; Robinson, Peter N.; Sansen, Stefaan; Mehrian-Shai, Ruty; Steward, Charles; Kosaki, Kenjiro; Durao, Patricia; Sadikovic, Bekim
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Inborn errors of the malate aspartate shuttle - Update on patients and cellular models
err2024-08-01
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errKoch, Jasmine; Broeks, Melissa H.; Gautschi, Matthias; Jans, Judith; Laemmle, Alexander
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Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease
err2024-06-25
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errvan Dijk, Myrthe J.; Ruiter, Titine J. J.; van der Veen, Sigrid; Rab, Minke A. E.; van Oirschot, Brigitte A.; Bos, Jennifer; Derichs, Cleo; Rijneveld, Anita W.; Cnossen, Marjon H.; Nur, Erfan; Biemond, Bart J.; Bartels, Marije; Schutgens, Roger E. G.; van Solinge, Wouter W.; Jans, Judith J. M.; van Beers, Eduard J.; van Wijk, Richard
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Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes
err2024-04-25
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errMeijer, Nils W. F.; Zwakenberg, Susan; Gerrits, Johan; Westland, Denise; Ardisasmita, Arif I.; Fuchs, Sabine A.; Verhoeven-Duif, Nanda M.; Jans, Judith J. M.; Zwartkruis, Fried J. T.
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UPLC-Orbitrap-HRMS application for analysis of plasma sterols
err2024-04-01
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errvan der Ham, Maria; Gerrits, Johan; Prinsen, Berthil; van Hasselt, Peter; Fuchs, Sabine; Jans, Judith; Willems, Anke; de Sain-van der Velden, Monique
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One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study
err2023-12-15
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errvan Dijk, Myrthe J.; Rab, Minke A. E.; van Oirschot, Brigitte A.; Bos, Jennifer; Derichs, Cleo; Rijneveld, Anita W.; Cnossen, Marjon H.; Nur, Erfan; Biemond, Bart J.; Bartels, Marije; Jans, Judith J. M.; van Solinge, Wouter W.; Schutgens, Roger E. G.; van Wijk, Richard; van Beers, Eduard J.
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Metabolic Alterations in NADSYN1-Deficient Cells
err2023-12-12
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errMeijer, Nils W. F.; Gerrits, Johan; Zwakenberg, Susan; Zwartkruis, Fried J. T.; Verhoeven-Duif, Nanda M.; Jans, Judith J. M.
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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening
err2023-11-10
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errAchleitner, Melanie T.; Jans, Judith J. M.; Ebner, Laura; Spenger, Johannes; Konstantopoulou, Vassiliki; Feichtinger, Rene G.; Brugger, Karin; Mayr, Doris; Wevers, Ron A.; Thiel, Christian; Wortmann, Saskia B.; Mayr, Johannes A.
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