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  1. 2014

  2. Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures

    de Roo, M. G. A., Abeling, N. G. G. M., Majoie, C. B., Bosch, A. M., Koelman, J. H. T. M., Cobben, J. M., Duran, M. & Poll-The, B. T., 2014, In: Molecular genetics and metabolism. 111, 3, p. 404-407

    Research output: Contribution to journal › Article › Academic › peer-review

  3. Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters

    Dercksen, M., IJlst, L., Duran, M., Mienie, L. J., van Cruchten, A., van der Westhuizen, F. H. & Wanders, R. J. A., 2014, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1842, 12 Part A, p. 2510-2516

    Research output: Contribution to journal › Article › Academic › peer-review

  4. Mitochondrial Fatty Acid Oxidation Disorders

    Spiekerkoetter, U. & 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. 247-264

    Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

  5. Organic acids

    Tavares de Almeida, 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. 761-773

    Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

  6. Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases

    Blau, N. (ed.), Duran, M. (ed.), Gibson, K. M. (ed.) & Dionisi-Vici, C. (ed.), 2014, New York; Berlin: Springer.

    Research output: Book/Report › Book editing › Academic

  7. Simple tests

    Gibson, K. M. & 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. 743-747

    Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

  8. Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases

    Luís, P. B. M., Ruiter, J., Ijlst, L., de Almeida, I. T., Duran, M., Wanders, R. J. A. & Silva, M. F. B., 2014, In: Journal of inherited metabolic disease. 37, 3, p. 353-357

    Research output: Contribution to journal › Article › Academic › peer-review

  9. 2013

  10. Genetic basis of hyperlysinemia

    Houten, S. M., te Brinke, H., Denis, S., Ruiter, J. P., Knegt, A. C., de Klerk, J. B., Augoustides-Savvopoulou, P., Häberle, J., Baumgartner, M. R., Coşkun, T., Zschocke, J., Sass, J. O., Poll-The, B. T., Wanders, R. J. & Duran, M., 2013, In: Orphanet journal of rare diseases. 8, 1, p. 57

    Research output: Contribution to journal › Article › Academic › peer-review

  11. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

    Wortmann, S. B., Duran, M., Anikster, Y., Barth, P. G., Sperl, W., Zschocke, J., Morava, E. & Wevers, R. A., 2013, In: Journal of inherited metabolic disease. 36, 6, p. 923-928

    Research output: Contribution to journal › Article › Academic › peer-review

  12. Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

    Veiga-da-Cunha, M., Verhoeven-Duif, N. M., de Koning, T. J., Duran, M., Dorland, B. & van Schaftingen, E., 2013, In: Journal of inherited metabolic disease. 36, 6, p. 961-966

    Research output: Contribution to journal › Article › Academic › peer-review

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