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  1. 2007

  2. Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice

    Keane, M. H., Overmars, H., Wikander, T. M., Ferdinandusse, S., Duran, M., Wanders, R. J. A. & Faust, P. L., 2007, In: Hepatology (Baltimore, Md.). 45, 4, p. 982-997

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

  3. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency

    van Kuilenburg, A. B. P., Meijer, J., Dobritzsch, D., Meinsma, R., Duran, M., Lohkamp, B., Zoetekouw, L., Abeling, N. G. G. M., van Tinteren, H. L. G. & Bosch, A. M., 2007, In: Molecular genetics and metabolism. 91, 2, p. 157-164

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

  4. Effect of temperature on the stability of long-chain acylcarnitines in human blood prior to plasma separation

    Mancinelli, A., Iannoni, E., Calvani, M. & Duran, M., 2007, In: Clinica chimica acta; international journal of clinical chemistry. 375, 1-2, p. 169-170

    Research output: Contribution to journal › Comment/Letter to the editor › Academic

  5. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

    Kölker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., Goodman, S. I., Koeller, D. M., Müller, E., Naughten, E. R., Neumaier-Probst, E., Okun, J. G., Kyllerman, M., Surtees, R. A., Wilcken, B., Hoffmann, G. F. & Burgard, P., 2007, In: Journal of inherited metabolic disease. 30, 1, p. 5-22

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

  6. High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme

    ten Hoedt, A. E., van Kempen, A. A., Boelen, A., Duran, M., Kemper-Proper, E. A., Oey-Spauwen, M. J. W., Wijburg, F. A. & Bosch, A. M., 2007, In: Journal of inherited metabolic disease. 30, 6, p. 978

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

  7. Inborn Errors of Metabolism

    Duran, M., Abeling, N. G. G. M., van Kuilenburg, A. B. P., Wanders, R. J. A. & Waterham, H. R., 2007, Clinical Chemistry behind the Dykes. van Pelt, J. & Poland, D. C. W. (eds.). Utrecht: Netherlands Society for Clinical Chemistry and Laboratory Medicine (NVKC), p. 113-126

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

  8. Lactaatacidose en glutamaatophoping in het bloed van neonaten na behandeling met calciumlevulaat wegens hypocalciëmie

    Williams, M., Huijmans, J. G. M., Duran, M., de Klerk, J. B. C., van Maldegem, B. T. & Poll-The, B. T., 2007, In: Nederlands tijdschrift voor geneeskunde. 151, 21, p. 1191-1196

    Research output: Contribution to journal › Article › Professional

  9. Molecular and clinical characterization of a Moroccan Cog7 deficient patient

    Ng, B. G., Kranz, C., Hagebeuk, E. E. O., Duran, M., Abeling, N. G. G. M., Wuyts, B., Ungar, D., Lupashin, V., Hartdorff, C. M., Poll-The, B. T. & Freeze, H. H., 2007, In: Molecular genetics and metabolism. 91, 2, p. 201-204

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

  10. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

    Loupatty, F. J., Clayton, P. T., Ruiter, J. P. N., Ofman, R., Ijlst, L., Brown, G. K., Thorburn, D. R., Harris, R. A., Duran, M., Desousa, C., Krywawych, S., Heales, S. J. R. & Wanders, R. J. A., 2007, In: American journal of human genetics. 80, 1, p. 195-199

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

  11. Phenotype of adult Refsum disease due to a defect in peroxin 7

    Horn, M. A., van den Brink, D. M., Wanders, R. J. A., Duran, M., Poll-The, B. T., Tallaksen, C. M. E., Stokke, O. H., Moser, H. & Skjeldal, O. H., 2007, In: Neurology. 68, 9, p. 698-700

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

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