1. 2019
  2. Identification of human D lactate dehydrogenase deficiency

    Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., Calì, F., & 8 othersBosco, P., Geleijns, K., de Sain-van der Velden, M. G. M., Knoers, N. V., Bakkers, J., Verhoeven-Duif, N. M., van Haaften, G. & Jans, J. J., 2019, In: Nature communications. 10, 1, 1477.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 2017
  4. Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

    Huijmans, J. G. M., Schot, R., de Klerk, J. B. C., Williams, M., de Coo, R. F. M., Duran, M., Verheijen, F. W., van Slegtenhorst, M. & Mancini, G. M. S., 2017, In: American journal of medical genetics. Part A. 173A, 6, p. 1601-1606

    Research output: Contribution to journalArticleAcademicpeer-review

  5. 2016
  6. A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

    Dercksen, M., Duran, M., Ijlst, L., Kulik, W., Ruiter, J. P. N., van Cruchten, A., Tuchman, M. & Wanders, R. J. A., 2016, In: Molecular genetics and metabolism. 119, 4, p. 307-310

    Research output: Contribution to journalArticleAcademicpeer-review

  7. Interpretation of Acylcarnitine Analysis Results

    Duran, M. & Tavares de Almeida, I., 2016, Inherited Metabolic Disease in Adults: A Clinical Guide . Hollak, C. E. M. & Lachmann, R. (eds.). Oxford University Press, p. 569-575 Chapter 85

    Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

  8. Interpretation of Organic Acid Analysis Results

    Duran, M. & Tavares de Almeida, I., 2016, Inherited Metabolic Disease in Adults: A Clinical Guide . Hollak, C. E. M. & Lachmann, R. (eds.). Oxford University Press, p. 565-568 Chapter 84

    Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

  9. Polyunsaturated fatty acid status in treated isovaleric acidemia patients

    Dercksen, M., Kulik, W., Mienie, L. J., Reinecke, C. J., Wanders, R. J. A. & Duran, M., 2016, In: European journal of clinical nutrition. 70, 10, p. 1123-1126

    Research output: Contribution to journalArticleAcademicpeer-review

  10. 2015
  11. Branched Chain Amino Acid Oxidation Disorders

    Wanders, R. J. A., Duran, M. & Loupatty, F., 2015, Branched Chain Amino Acids in Clinical Nutrition : Volume 1. Rajendram, R., Preedy, V. R. & Patel, V. B. (eds.). New York: Springer, p. 129-143 (Nutrition and health).

    Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

  12. Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

    Hagen, J., te Brinke, H., Wanders, R. J. A., Knegt, A. C., Oussoren, E., Hoogeboom, A. J. M., Ruijter, G. J. G., Becker, D., Schwab, K. O., Franke, I., Duran, M., Waterham, H. R., Sass, J. O. & Houten, S. M., 2015, In: Journal of inherited metabolic disease. 38, 5, p. 873-879

    Research output: Contribution to journalArticleAcademicpeer-review

  13. 2014
  14. Biochemical phenotypes of questionable clinical significance

    Goodman, S. I. & Duran, M., 2014, Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Blau, N., Duran, M., Gibson, K. M. & Dionisi-Vici, C. (eds.). New York; Berlin: Springer, p. 691-705

    Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

  15. Emergency diagnostic procedures and emergency treatment

    Grünewald, S., Davison, J., Martinelli, D., Duran, M. & Dionisi-Vici, C., 2014, Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Blau, N., Duran, M., Gibson, K. M. & Dionisi-Vici, C. (eds.). New York; Berlin: Springer, p. 709-717

    Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

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