Section Metabolic Diagnostics

Research output

Research output per year 1982 2015 2016 2019 2020 2021 2023 2025

• 182 Article
• 21 Meeting Abstract
• 11 Review article
• 8 Comment/Letter to the editor
• 22 More
  • 7 Chapter
  • 5 Doctoral thesis 1 (Research UU / Graduation UU)
  • 4 Letter
  • 2 Abstract
  • 1 Paper
  • 1 Poster
  • 1 Literature review
  • 1 Short survey

Research output per year

Research output per year

Search results

• 2021

  UNTARGETED METABOLIC PROFILING IN DRIED BLOOD SPOTS REVEALS METABOLIC FINGERPRINT FOR 22Q11.2 DELETION SYNDROME

  Zinkstok, J., Korteling, D., Fiksinski, A., Jans, J., Verhoeven, N. & Boks, M., Oct 2021, In: European Neuropsychopharmacology. 51, p. E130-E130 TU64.

  Research output: Contribution to journal › Meeting Abstract › Academic
• 2018

  Identification of human D lactate dehydrogenase

  Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., van der Crabben, S. N., Lichtenbelt, K. D., Gerrits, J., van Roosmalen, M. J., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T., Cali, F., Bosco, P., de Sain-van der Velden, M. G. M. & Knoers, N. V. & 4 others, Bakkers, J., Duif-Verhoeven, N. M., van Haaften, G. & Jans, J. J., Oct 2018, In: European Journal of Human Genetics. 26, p. 296-297

  Research output: Contribution to journal › Meeting Abstract › Academic
• 2016

  Glycolysis and the formation of building blocks in proliferating epithelial cells

  Fuchs, S. A., Schene, I., van Hasselt, P., Houtkooper, R. H., Verhoeven-Duif, N. & Nieuwenhuis, E., Aug 2016, In: Journal of Inherited Metabolic Disease. 39, S1, p. 204 1 p.

  Research output: Contribution to journal › Meeting Abstract › Academic

  Open Access

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  • Aerobic Glycolysis 100%
  2 Downloads (Pure)
• 2015

  Therapeutic options for patients with neuraminidase deficiency

  Schene, I. F., Velden, M. G. M. D.S.-V. D., Ayuso, V. K., van Gassen, K. L. I., Cuppen, I. & Visser, G., Feb 2015, In: Molecular Genetics and Metabolism. 114, 2, p. S102-S103 2 p., 227.

  Research output: Contribution to journal › Meeting Abstract › Other research output

  • Sialidase 100%
  • Neuraminidase 100%
  • Myoclonus 60%
  • Intention Tremor 60%
  • Unsteady Gait 20%
• 2012

  Incomplete thermal ablation induces increased proliferation of renal carcinoma cells in a murine model

  Kroeze, S. G. C., Van Melick, H. H. E., Nijkamp, M. W., Kruijssen, L. W. J., Van Diest, P. J., Bosch, J. L. H. R. & Jans, J. J. M., Feb 2012, In: European Urology Supplements. 11, 1, p. E197-E197 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output

• INCOMPLETE THERMAL ABLATION INDUCES INCREASED PROLIFERATION OF RENAL CARCINOMA CELLS IN A MURINE MODEL.

  Kroeze, S., van Melick, H., Nijkamp, M., Kruijssen, L., van Diest, P., Bosch, R. & Jans, J., Apr 2012, In: The Journal of Urology. 187, 4, p. E119-E120 2 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output

• SUPPLEMENTATION OF PKU PATIENTS WITH KEYOMEGA (R) NORMALIZES DHA AND AA LEVELS

  Jans, J. J., de Sain-Van der, V. M., van Hasselt, P. M., van den Hurk, D. A., Vaz, F. M., Visser, G. & Verhoeven-Duif, N. M., Sept 2012, In: Journal of Inherited Metabolic Disease. 35, p. S39-S39 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output
• 2011

  HIGH INCIDENCE OF HYPERAMMONEMIA IN CHILDREN WITH ACUTE LYMPHOBLASTIC LEUKEMIA RECEIVING PEGYLATED ASPARAGINASE

  Heitink-Polle, K. M. J., Prinsen, B. H. C. M. T., de Koning, T. J., Bierings, M. B. & van Hasselt, P. M., 2011, In: Journal of Inherited Metabolic Disease. 34, p. S89-S89 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output

• PROLINE/CITRULLINE RATIO AS A BIOMARKER FOR OAT DEFICIENCY IN EARLY INFANCY

  de Sain-van der Velden, M. G. M., Rinaldo, P., Elvers, B., Prinsen, H. C. M. T., Verhoeven-Duif, N. M., de Koning, T. J. & van Hasselt, P., 2011, In: Journal of Inherited Metabolic Disease. 34, p. S252-S252 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output
• 2010

  Increased capacity to oxidize fatty acids does not prevent development of hepatic steatosis in high-fat diet fed rats

  Ciapaite, J., van den Broek, N. M. A., Houten, S. M., Wanders, R. J. A., Nicolay, K., Jeneson, J. A. L. & Prompers, J. J., Apr 2010, In: FASEB Journal. 24

  Research output: Contribution to journal › Meeting Abstract › Academic
• 2009

  ANALYSIS OF URINARY ORGANIC ACIDS BY DUAL DETECTION: AN IMPROVEMENT OF DIAGNOSTIC EFFICIENCY

  Prinsen, B. H. C. M. T., de Barse, M. M. J., Verhoeven-Duif, N. & de Sain-van der Velden, M. G. M., 2009, In: Molecular Genetics and Metabolism. 98, 1-2, p. 119-119 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output

• TISSUE MICRO ARRAY REVEALS NOVEL PROGNOSTIC MARKERS FOR CLEAR CELL RENAL CELL CARCINOMA

  Kroeze, S. G. C., Van Melick, H. H., Vermaat, J. S., Van Diest, P. J., Voest, E. E., Bosch, J. L. H. R. & Jans, J. J. M., Mar 2009, In: European Urology Supplements. 8, 4, p. 297-297 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output
• 2008

  Abnormal metabolite screening in a patient with Berardinelli-Seip congenital lipodystrophy

  Verhoeven-Duif, N. M., de Koning, T. J., de Vroede, M. A. M., Hamers, N., de Sain-van der Velden, M. G. M., Prinsen, B. H. C. M. T., Jeninga, E. H., Berger, R., Klomp, L. & Kalkhoven, E., Aug 2008, In: Journal of Inherited Metabolic Disease. 31, p. 95-95 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output

• Long-chain ketoacyl-CoA thiolase deficiency in the Dutch newborn screening program: A new case

  Prinsen, B. H. C. M. T., de Koning, T. J., de Sain-van der Velden, M. G. M., Duran, M., Wanders, R. J. A., Berger, R. & Verhoeven-Duif, N. M., Aug 2008, In: Journal of Inherited Metabolic Disease. 31, p. 31-31 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output

• Sensitive and rapid analysis of amino acid concentrations in CSF by stable isotope dilution LC-MSMS

  Verhoeven-Duif, N. M., Van der Ham, M., Prinsen, B. H. C. M. T., Berger, R., Klomp, L. & De Sain-Van der Velden, M. G. M., Aug 2008, In: Journal of Inherited Metabolic Disease. 31, p. 1-1 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output
• 2007

  Monitoring cholesterol precursors in siblings with cerebrotendinous xanthomatosis: A follow up

  de Sain-van der Velden, M. G. M., Prinsen, H. C. M. T., Verrips, A., Verhoeven-Duif, N. M., Dorland, L., de Barse, M., Berger, R., De Koning, T. J. & Visser, G., Aug 2007, In: Journal of Inherited Metabolic Disease. 30, p. 125-125 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output

• Sjogren-Larsson syndrome: Motor performance and everyday functioning

  Verhoog, J., Fuijkschot, J., Willemsen, M. A., Ketelaar, M., Rotteveel, J. J. & Gorter, J. W., Aug 2007, In: Journal of Inherited Metabolic Disease. 30, p. 91-91 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output
• 2006

  Enhanced APOB48 metabolism in lipoprotein lipase S447X carriers

  Nierman, M. C., Rip, J., Kuivenhoven, J. A., Sakai, N., Kastelein, J. J. P., De Sain-Van Der Velden, M. G. M., Stroes, E. S. G. & Prinsen, B. H., Jun 2006, In: Atherosclerosis supplements. 7, 3, p. 134-134 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output
• 2005

  Enhanced VLDL conversion and increased LDL removal in LPLS447X carriers

  Nierman, M., Rip, J., Kuivenhoven, J., Kastelein, J., Stroes, E., Prinsen, B. & Sain-Van der Velden, M., 25 Oct 2005, In: Circulation. 112, 17, p. U188-U188 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output
• 2000

  UV-irradiation results in delay of cell cycle progression and formation of micronuclei with different effectiveness in cultured human fibroblasts and melanocytes as determined by flow cytometry

  Emri, G., Wenczl, E., van Erp, P., Jans, J., Roza, L., Schothorst, A. & Horkay, I., 15 Apr 2000, In: Cytometry. 42, 2, p. 146-147 2 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output
• 1998

  Famcyclovir followed by famcyclovir with interferon for chronic active hepatitis B resistant to interferon alone.

  van Hoek, B., Jans, J., Kroes, A. & Lamers, C., Oct 1998, In: Hepatology. 28, 4, p. 491A-491A 1 p.

  Research output: Contribution to journal › Meeting Abstract › Other research output