Metabolic Alterations in NADSYN1-Deficient Cells by Nils W. F. Meijer, Johan Gerrits, Susan Zwakenberg, Fried J. T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J. M. Jans

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Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics by Hanneke A. Haijes, Eline A.J. Willemse, Johan Gerrits, Wiesje M. van der Flier, Charlotte E. Teunissen, Nanda M. Verhoeven-Duif, Judith J.M. Jans

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Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts by Mirjam E. van Albada, Pratik Shah, Terry G. J. Derks, Sabine Fuchs, Judith J. M. Jans, Valérie McLin, Hubert P. J. van der Doef

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Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome by Dorinde Korteling, Marco P. Boks, Ania M. Fiksinski, Ilja N. van Hoek, Jacob A. S. Vorstman, Nanda M. Verhoeven-Duif, Judith J. M. Jans, Janneke R. Zinkstok

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Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio by H.A. Haijes, Hubertus C.M.T. Prinsen, Monique G.M. de Sain-van der Velden, Nanda M. Verhoeven-Duif, Peter M. van Hasselt, Judith J.M. Jans

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Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes by Nils W. F. Meijer, Susan Zwakenberg, Johan Gerrits, Denise Westland, Arif I. Ardisasmita, Sabine A. Fuchs, Nanda M. Verhoeven-Duif, Judith J. M. Jans, Fried J. T. Zwartkruis

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Vitamin B6 in plasma and cerebrospinal fluid of children. by Monique Albersen, Marjolein Bosma, Judith J M Jans, Floris C Hofstede, Peter M van Hasselt, Monique G M de Sain-van der Velden, Gepke Visser, Nanda M Verhoeven-Duif

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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening by Melanie T. Achleitner, Judith J. M. Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, René G. Feichtinger, Karin Brugger, Doris Mayr, Ron A. Wevers, Christian Thiel, Saskia B. Wortmann, Johannes A. Mayr

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Metabolomics in Severe Aortic Stenosis Reveals Intermediates of Nitric Oxide Synthesis as Most Distinctive Markers by Beau Olivier van Driel, Maike Schuldt, Sila Algül, Evgeni Levin, Ahmet Güclü, Tjeerd Germans, Albert C. van Rossum, Jiayi Pei, Magdalena Harakalova, Annette Baas, Judith J. M. Jans, Jolanda van der Velden

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Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity by Birgit van Dooijeweert, Melissa H. Broeks, Nanda M. Verhoeven-Duif, Wouter W. van Solinge, Eduard J. van Beers, Minke A. E. Rab, Edward E. S. Nieuwenhuis, Judith J. M. Jans, Marije Bartels, Richard van Wijk

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Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm by Hanneke A. Haijes, Maria van der Ham, Hubertus C.M.T. Prinsen, Melissa H. Broeks, Peter M. van Hasselt, Monique G.M. de Sain-van der Velden, Nanda M. Verhoeven-Duif, Judith J.M. Jans

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A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy by Lynne Rumping, Petra J. W. Pouwels, Nicole I. Wolf, Holger Rehmann, Mirjam M. C. Wamelink, Quinten Waisfisz, Judith J. M. Jans, Hubertus C. M. T. Prinsen, Jiddeke M. van deKamp, Peter M. vanHasselt

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The malate-aspartate shuttle is important for de novo serine biosynthesis by Melissa H. Broeks, Nils W.F. Meijer, Denise Westland, Marjolein Bosma, Johan Gerrits, Hannah M. German, Jolita Ciapaite, Clara D.M. van Karnebeek, Ronald J.A. Wanders, Fried J.T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J.M. Jans

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Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma by Hanneke A. Haijes, Marcel Willemsen, Maria Van der Ham, Johan Gerrits, Mia L. Pras-Raves, Hubertus C. M. T. Prinsen, Peter M. Van Hasselt, Monique G. M. De Sain-van der Velden, Nanda M. Verhoeven-Duif, Judith J. M. Jans

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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases by Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic

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Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy by Maike Schuldt, Beau van Driel, Sila Algül, Rahana Y. Parbhudayal, Daniela Q. C. M. Barge-Schaapveld, Ahmet Güçlü, Mark Jansen, Michelle Michels, Annette F. Baas, Mark A. van de Wiel, Max Nieuwdorp, Evgeni Levin, Tjeerd Germans, Judith J. M. Jans, Jolanda van der Velden

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A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease by Myrthe J. vanDijk, Marissa J. M. Traets, Brigitte A. vanOirschot, Titine J. J. Ruiter, Jonathan R. A. deWilde, Jennifer Bos, Wouter W. vanSolinge, Margaret J. Koziel, Judith J. M. Jans, Revati Wani, Eduard J. vanBeers, Richard vanWijk, Minke A. E. Rab

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Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics by Marten H. P. M. Kerkhofs, Hanneke A. Haijes, A. Marcel Willemsen, Koen L. I. van Gassen, Maria van der Ham, Johan Gerrits, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Hanneke W. M. van Deutekom, Peter M. van Hasselt, Nanda M. Verhoeven-Duif, Judith J. M. Jans

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A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases by Anke P. Willems, Maria van der Ham, Birgit G. M. Schiebergen-Bronkhorst, Mirjam van Aalderen, Martina M. J. de Barse, Fini E. De Gruyter, Ilja N. van Hoek, Mia L. Pras-Raves, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif, Judith J. M. Jans

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Intratumoral administration of holmium-166 acetylacetonate microspheres: antitumor efficacy and feasibility of multimodality imaging in renal cancer. by Wouter Bult, Stephanie G C Kroeze, Mattijs Elschot, Peter R Seevinck, Freek J Beekman, Hugo W A M de Jong, Donald R A Uges, Jos G W Kosterink, Peter R Luijten, Wim E Hennink, Alfred D van het Schip, J L H Ruud Bosch, J Frank W Nijsen, Judith J M Jans

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