1. 2019
  2. Corrigendum to "Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function" [Biochim. Biophys. Acta, Mol. Cell Biol. Lipids 1864/5(2019) 654-661]

    Raja, V., Salsaa, M., Joshi, A. S., Li, Y., van Roermund, C. W. T., Saadat, N., Lazcano, P., Schmidtke, M., Hüttemann, M., Gupta, S. V., Wanders, R. J. A. & Greenberg, M. L., Aug 2019, In : BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1864, 8, p. 1183

    Research output: Contribution to journalErratum/CorrigendumAcademic

  3. Glutaminase deficiency caused by short tandem repeat expansion in GLS

    van Kuilenburg, A. B. P., Tarailo-Graovac, M., Richmond, P. A., Drögemöller, B. I., Pouladi, M. A., Leen, R., Brand-Arzamendi, K., Dobritzsch, D., Dolzhenko, E., Eberle, M. A., Hayward, B., Jones, M. J., Karbassi, F., Kobor, M. S., Koster, J., Kumari, D., Li, M., MacIsaac, J., McDonald, C., Meijer, J. & 25 othersNguyen, C., Rajan-Babu, I. S., Scherer, S. W., Sim, B., Trost, B., Tseng, L. A., Turkenburg, M., van Vugt, J. J. F. A., Veldink, J. H., Walia, J. S., Wang, Y., van Weeghel, M., Wright, G. E. B., Xu, X., Yuen, R. K. C., Zhang, J., Ross, C. J., Wasserman, W. W., Geraghty, M. T., Santra, S., Wanders, R. J. A., Wen, X. Y., Waterham, H. R., Usdin, K. & van Karnebeek, C. D. M., 11 Apr 2019, In : New England journal of medicine. 380, 15, p. 1433-1441 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era

    Wanders, R. J. A., Vaz, F. M., Ferdinandusse, S., van Kuilenburg, A. B. P., Kemp, S., van Karnebeek, C. D., Waterham, H. R. & Houtkooper, R. H., Mar 2019, In : Journal of inherited metabolic disease. 42, 2, p. 197-208 12 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  5. A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency

    Ferdinandusse, S., te Brinke, H., Ruiter, J. P. N., Haasjes, J., Oostheim, W., van Lenthe, H., IJlst, L., Ebberink, M. S., Wanders, R. J. A., Vaz, F. M. & Waterham, H. R., 2019, In : Human mutation. 40, 10, p. 1899-1904

    Research output: Contribution to journalArticleAcademicpeer-review

  6. An UPLC-MS/MS assay to measure glutathione as marker for oxidative stress in cultured cells

    Herzog, K., Ijlst, L., van Cruchten, A. G., van Roermund, C. W. T., Kulik, W., Wanders, R. J. A. & Waterham, H. R., 2019, In : Metabolites. 9, 3, 45.

    Research output: Contribution to journalArticleAcademicpeer-review

  7. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

    van Karnebeek, C. D. M., Ramos, R. B. J., Wen, X-Y., Tarailo-Graovac, M., Gleeson, J. G., Skrypnyk, C., Brand-Arzamendi, K., Karbassi, F., Issa, M. Y., van der Lee, R., Drögemöller, B. I., Koster, J., Rousseau, J., Campeau, P. M., Wang, Y., Cao, F., Li, M., Ruiter, J., Ciapaite, J., Kluijtmans, L. A. J. & 13 othersWillemsen, M. A. A. P., Jans, J. J., Ross, C. J., Wintjes, L. T., Rodenburg, R. J., Huigen, M. C. D. G., Jia, Z., Waterham, H. R., Wasserman, W. W., Wanders, R. J. A., Verhoeven-Duif, N. M., Zaki, M. S. & Wevers, R. A., 2019, In : American journal of human genetics. 105, 3, p. 534-548

    Research output: Contribution to journalArticleAcademicpeer-review

  8. Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome

    Cade, W. T., Bohnert, K. L., Peterson, L. R., Patterson, B. W., Bittel, A. J., Okunade, A. L., de las Fuentes, L., Steger-May, K., Bashir, A., Schweitzer, G. G., Chacko, S. K., Wanders, R. J., Pacak, C. A., Byrne, B. J. & Reeds, D. N., 2019, In : Journal of inherited metabolic disease. 42, 3, p. 480-493

    Research output: Contribution to journalArticleAcademicpeer-review

  9. Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function

    Raja, V., Salsaa, M., Joshi, A. S., Li, Y., van Roermund, C. W. T., Saadat, N., Lazcano, P., Schmidtke, M., Hüttemann, M., Gupta, S. V., Wanders, R. J. A. & Greenberg, M. L., 2019, In : BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1864, 5, p. 654-661

    Research output: Contribution to journalArticleAcademicpeer-review

  10. Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients

    Verly, I. R. N., Leen, R., Meinsma, J. R., Hooijer, G. K. J., Savci-Heijink, C. D., van Nes, J., Broekmans, M., Wanders, R. J. A., van Kuilenburg, A. B. P. & Tytgat, G. A. M., 2019, In : European journal of cancer (Oxford, England. 111, p. 21-29

    Research output: Contribution to journalArticleAcademicpeer-review

  11. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

    Bleeker, J. C., Kok, I. L., Ferdinandusse, S., van der Pol, W. L., Cuppen, I., Bosch, A. M., Langeveld, M., Derks, T. G. J., Williams, M., de Vries, M., Mulder, M. F., Gozalbo, E. R., de Sain-van der Velden, M. G. M., Rennings, A. J., Schielen, P. J. C. I., Dekkers, E., Houtkooper, R. H., Waterham, H. R., Pras-Raves, M. L., Wanders, R. J. A. & 4 othersvan Hasselt, P. M., Schoenmakers, M., Wijburg, F. A. & Visser, G., 2019, In : Journal of inherited metabolic disease.

    Research output: Contribution to journalArticleAcademicpeer-review

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