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dr. J.J.M. (Judith) Jans

dr. J.J.M. (Judith) Jans

Associate Professor

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Research Output (103)

Metabolic Alterations in NADSYN1-Deficient Cells

Meijer Nils W F, Gerrits Johan, Zwakenberg Susan, Zwartkruis Fried J T, Verhoeven-Duif Nanda M, Jans Judith J M 12 Dec 2023, In: Metabolites. 13 12 p.

Inflammation-induced mitochondrial and metabolic disturbances in sensory neurons control the switch from acute to chronic pain

Willemen HLDM, Silva Santos Ribeiro Patrícia, Broeks Melissa, Meijer Nils, Versteeg Sabine, Tiggeler Annefien, de Boer Teun, Małecki Jędrzej, Falnes Pål Ø, Jans Judith, Eijkelkamp Niels 21 Nov 2023, In: Cell reports. Medicine. 4 16 p.

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

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 10 Nov 2023, In: Metabolites. 13 14 p.

One-year safety and efficacy of mitapivat in sickle cell disease:follow-up results of a phase 2, open-label study

van 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 W W, Schutgens Roger E G, van Wijk Richard, van Beers Eduard J 7 Nov 2023, In: Blood Advances. 7 , p. 7539-7550

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

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 2 Nov 2023, In: Frontiers in Molecular Biosciences. 10 9 p.

The malate-aspartate shuttle is important for de novo serine biosynthesis

Broeks Melissa H, Meijer Nils W F, Westland Denise, Bosma Marjolein, Gerrits Johan, German Hannah M, Ciapaite Jolita, van Karnebeek Clara D M, Wanders Ronald J A, Zwartkruis Fried J T, Verhoeven-Duif Nanda M, Jans Judith J M 29 Aug 2023, In: Cell Reports. 42 , p. 1-18

Maintenance of cellular vitamin B <sub>6</sub> levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein

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 13 Jul 2023, In: The Journal of biological chemistry. 299 15 p.

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

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. May 2023, In: JIMD Reports. 64 , p. 217-222 6 p.

Viral, bacterial, metabolic, and autoimmune causes of severe acute encephalopathy in sub-Saharan Africa:a multicenter cohort study

Edridge Arthur, Namazi Ruth, Tebulo Andrew, Mfizi Anan, Deijs Martin, Koekkoek Sylvie, de Wever Bob, van der Ende Arie, Umiwana Jeanine, de Jong Menno D, Jans Judith, Verhoeven-Duif Nanda, Titulaer Maarten, van Karnebeek Clara, Seydel Karl, Taylor Terrie, Asiimwe-Kateera Brenda, van der Hoek Lia, Kabayiza Jean-Claude, Mallewa Macpherson, Idro Richard, Boele van Hensbroek Michael, van Woensel Job B M 23 Feb 2023, In: The Journal of Pediatrics. 258 17 p.

Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

Jansen Mark, Schuldt Maike, van Driel Beau O, Schmidt Amand F, Christiaans Imke, van der Crabben Saskia N, Hoedemaekers Yvonne M, Dooijes Dennis, Jongbloed Jan D H, Boven Ludolf G, Deprez Ronald H Lekanne, Wilde Arthur A M, Jans Judith J M, van der Velden Jolanda, de Boer Rudolf A, van Tintelen J Peter, Asselbergs Folkert W, Baas Annette F 17 Feb 2023, In: International journal of molecular sciences. 24

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