1. 2020
  2. A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease

    Smits, B. M., Lelieveld, P. H. C., Ververs, F. A., Turkenburg, M., de Koning, C., van Dijk, M., Leavis, H. L., Boelens, J. J., Lindemans, C. A., Bloem, A. C., van de Corput, L., van Montfrans, J., Nierkens, S., van Gijn, M. E., Geerke, D. P., Waterham, H. R., Koenderman, L. & Boes, M., Mar 2020, In: Clinical immunology (Orlando, Fla.). 212, 108248.

    Research output: Contribution to journalLetterAcademicpeer-review

  3. 2019
  4. 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

  5. Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder

    Chinopoulos, C., Batzios, S., van den Heuvel, L. P., Rodenburg, R., Smeets, R., Waterham, H. R., Turkenburg, M., Ruiter, J. P., Wanders, R. J. A., Doczi, J., Horvath, G., Dobolyi, A., Vargiami, E., Wevers, R. A. & Zafeiriou, D., 2019, In: Molecular genetics and metabolism. 126, 1, p. 43-52

    Research output: Contribution to journalArticleAcademicpeer-review

  6. 2014
  7. Monocarboxylate transporter 1 deficiency and ketone utilization

    van Hasselt, P. M., Ferdinandusse, S., Monroe, G. R., Ruiter, J. P. N., Turkenburg, M., Geerlings, M. J., Duran, K., Harakalova, M., van der Zwaag, B., Monavari, A. A., Okur, I., Sharrard, M. J., Cleary, M., O'Connell, N., Walker, V., Rubio-Gozalbo, M. E., de Vries, M. C., Visser, G., Houwen, R. H. J., van der Smagt, J. J., & 3 othersVerhoeven-Duif, N. M., Wanders, R. J. A. & van Haaften, G., 2014, In: New England journal of medicine. 371, 20, p. 1900-1907

    Research output: Contribution to journalArticleAcademicpeer-review

  8. Unprenylated RhoA contributes to IL-1β hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity

    van der Burgh, R., Pervolaraki, K., Turkenburg, M., Waterham, H. R., Frenkel, J. & Boes, M., 2014, In: Journal of biological chemistry. 289, 40, p. 27757-27765

    Research output: Contribution to journalArticleAcademicpeer-review

  9. 2010
  10. Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency

    Henneman, L., Schneiders, M. S., Turkenburg, M. & Waterham, H. R., 2010, In: Journal of inherited metabolic disease. 33, 5, p. 625-632

    Research output: Contribution to journalArticleAcademicpeer-review

  11. Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

    van Hove, J. L. K., Saenz, M. S., Thomas, J. A., Gallagher, R. C., Lovell, M. A., Fenton, L. Z., Shanske, S., Myers, S. M., Wanders, R. J. A., Ruiter, J., Turkenburg, M. & Waterham, H. R., 2010, In: Pediatric research. 68, 2, p. 159-164

    Research output: Contribution to journalArticleAcademicpeer-review

  12. The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy

    Ofman, R., Dijkstra, I. M. E., van Roermund, C. W. T., Burger, N., Turkenburg, M., van Cruchten, A., van Engen, C. E., Wanders, R. J. A. & Kemp, S., 2010, In: EMBO molecular medicine. 2, 3, p. 90-97

    Research output: Contribution to journalArticleAcademicpeer-review

  13. 2009
  14. The enigmatic role of tafazzin in cardiolipin metabolism

    Houtkooper, R. H., Turkenburg, M., Poll-The, B. T., Karall, D., Pérez-Cerdá, C., Morrone, A., Malvagia, S., Wanders, R. J., Kulik, W. & Vaz, F. M., 2009, In: BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES. 1788, 10, p. 2003-2014

    Research output: Contribution to journalReview articleAcademicpeer-review

  15. 2008
  16. Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand

    Huidekoper, H. H., Duran, M., Turkenburg, M., Ackermans, M. T., Sauerwein, H. P. & Wijburg, F. A., 2008, In: European journal of pediatrics. 167, 8, p. 859-865

    Research output: Contribution to journalArticleAcademicpeer-review

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