Incomplete thermal ablation stimulates proliferation of residual renal carcinoma cells in a translational murine model von Kroeze, Stephanie G.C., van Melick, Harm H.E., Nijkamp, Maarten W., Kruse, Fabian K., Kruijssen, Laura W.J., van Diest, Paul J., Bosch, J.L.H. Ruud, Jans, Judith J.M.

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

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

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Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screen... von Haijes, Hanneke A., Molema, Femke, Langeveld, Mirjam, Janssen, Mirian C., Bosch, Annet M., Spronsen, Francjan, Mulder, Margot F., Verhoeven‐Duif, Nanda M., Jans, Judith J.M., Ploeg, Ans T., Wagenmakers, Margreet A., Rubio‐Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Vries, Maaike C., Langendonk, Janneke G., Williams, Monique, Hasselt, Peter M.

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A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy von 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., Kamp, Jiddeke M., Hasselt, Peter M.

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

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Western diet triggers cardiac dysfunction in heterozygous Mybpc3-targeted knock-in mice: A two-hit model of hypertrophic cardiomyopathy von Nollet, Edgar E., Algül, Sila, Goebel, Max, Schlossarek, Saskia, van der Wel, Nicole N., Jans, Judith J.M., van de Wiel, Mark A., Knol, Jaco C., Pham, Thang V., Piersma, Sander R., de Goeij-de Haas, Richard, Hermans, Jill, van Klinken, Jan Bert, van Weeghel, Michel, Houtkooper, Riekelt H., Carrier, Lucie, Jimenez, Connie R., Kuster, Diederik W.D., van der Velden, Jolanda

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

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Expression of nuclear FIH independently predicts overall survival of clear cell renal cell carcinoma patients von Kroeze, Stephanie G.C, Vermaat, Joost S, van Brussel, Aram, van Melick, Harm H.E, Voest, Emile E, Jonges, Trudy G.N, van Diest, Paul J, Hinrichs, John, Bosch, J.L.H. Ruud, Jans, Judith J.M

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Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications von Haijes, Hanneke A., Jans, Judith J. M., Tas, Simone Y., Verhoeven‐Duif, Nanda M., Hasselt, Peter M.

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Red Blood Cell Pyruvate Kinase Properties in Sickle Cell Disease - of Mice and Men von Traets, Marissa J.M., van Oirschot, Brigitte A., Ruiter, Titine J.J., Levine, Charles, Rijneveld, Anita W., Jans, Judith J.M., Rab, Minke A.E., Chen, Yu-Wei, van Wijk, Richard

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Inborn disorders of the malate aspartate shuttle von Broeks, Melissa H., Karnebeek, Clara D. M., Wanders, Ronald J. A., Jans, Judith J. M., Verhoeven‐Duif, Nanda M.

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MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy von Broeks, Melissa H., Shamseldin, Hanan E., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Alshedi, Tarfa, Alobaid, Iman, Zwartkruis, Fried, Westland, Denise, Fuchs, Sabine, Verhoeven-Duif, Nanda M., Jans, Judith J. M., Alkuraya, Fowzan S.

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Discovery of pyridoxal reductase activity as part of human vitamin B6 metabolism von Ramos, Rúben J., Albersen, Monique, Vringer, Esmee, Bosma, Marjolein, Zwakenberg, Susan, Zwartkruis, Fried, Jans, Judith J.M., Verhoeven-Duif, Nanda M.

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mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes von Zwakenberg, Susan, Westland, Denise, van Es, Robert M., Rehmann, Holger, Anink, Jasper, Ciapaite, Jolita, Bosma, Marjolein, Stelloo, Ellen, Liv, Nalan, Sobrevals Alcaraz, Paula, Verhoeven-Duif, Nanda M., Jans, Judith J.M., Vos, Harmjan R., Aronica, Eleonora, Zwartkruis, Fried J.T.

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Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in sickle cell disease: A phase 2, open‐label study von Dijk, Myrthe J., Rab, Minke A. E., Oirschot, Brigitte A., Bos, Jennifer, Derichs, Cleo, Rijneveld, Anita W., Cnossen, Marjon H., Nur, Erfan, Biemond, Bart J., Bartels, Marije, Jans, Judith J. M., Solinge, Wouter W., Schutgens, Roger E. G., Wijk, Richard, Beers, Eduard J.

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Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies von Haijes, Hanneke A., Hasselt, Peter M., Jans, Judith J. M., Verhoeven‐Duif, Nanda M.

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Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy von Rumping, Lynne, Büttner, Benjamin, Maier, Oliver, Rehmann, Holger, Lequin, Maarten, Schlump, Jan-Ulrich, Schmitt, Bernhard, Schiebergen-Bronkhorst, Birgit, Prinsen, Hubertus C. M. T, Losa, Michele, Fingerhut, Ralph, Lemke, Johannes R, Zwartkruis, Fried J. T, Houwen, Roderick H. J, Jans, Judith J. M, Verhoeven-Duif, Nanda M, van Hasselt, Peter M, Jamra, Rami

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The Pyruvate Kinase (PK) Activator AG-946 Improves PK Properties and Red Blood Cell (RBC) Characteristics upon Ex Vivo treatment of RBCs from Patients with Myelodysplastic Syndrome... von De Wilde, Jonathan R.A., Ruiter, Titine J.J., van Oirschot, Brigitte A., Jans, Judith J.M., Dang, Lenny, Wind-Rotolo, Megan, Thielen, Noortje, van Solinge, Wouter W., van Rhenen, Anna, van Wijk, Richard, Rab, Minke A.E.

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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases von van Karnebeek, Clara D.M, O’Donnell-Luria, Anne, Baynam, Gareth, Baudot, Anaïs, 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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