31 - 40 out of 229Page size: 10
  1. 2012

  2. Folinic Acid Supplementation in Rett Syndrome Patients Does Not Influence the Course of the Disease: A Randomized Study

    Hagebeuk, E. E. O., Duran, M., Koelman, J. H. T. M., Abeling, N. G. G. M., Vyth, A. & Poll-The, B-T., 2012, In: Journal of child neurology. 27, 3, p. 304-309

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

  3. Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients

    Luís, P. B. M., Ruiter, J. P., Ijlst, L., Diogo, L., Garcia, P., de Almeida, I. T., Duran, M., Wanders, R. J. & Silva, M. F. B., 2012, In: Journal of inherited metabolic disease. 35, 3, p. 443-449

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

  4. 2011

  5. Milde multipele acylCoA dehydrogenase deficiëntie (MADD): De sleutel tot een riboflavine transporter defect als oorzaak van het Brown-Vialetto-Van Laere syndroom, een nieuwe behandelbare erfelijke stofwisselingsziekte

    Abeling, N. G. G. M., Duran, M., Bosch, A. M., Wanders, R. J. A., Wijburg, F. A. & Waterham, H. R., Oct 2011, In: Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde. 36, 4, p. 226-227 2 p.

    Research output: Contribution to journal › Article › Professional

  6. Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice

    Brites, P., Ferreira, A. S., da Silva, T. F., Sousa, V. F., Malheiro, A. R., Duran, M., Waterham, H. R., Baes, M. & Wanders, R. J. A., 2011, In: PLoS ONE. 6, 12, p. e28539

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

  7. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

    Bosch, A. M., Abeling, N. G. G. M., Ijlst, L., Knoester, H., van der Pol, W. L., Stroomer, A. E. M., Wanders, R. J., Visser, G., Wijburg, F. A., Duran, M. & Waterham, H. R., 2011, In: Journal of inherited metabolic disease. 34, 1, p. 159-164

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

  8. Clinical and electroencephalographic effects of folinic acid treatment in Rett syndrome patients

    Hagebeuk, E. E. O., Koelman, J. H. T. M., Duran, M., Abeling, N. G., Vyth, A. & Poll-The, B-T., 2011, In: Journal of child neurology. 26, 6, p. 718-723

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

  9. Diagnosis and management of glutaric aciduria type I--revised recommendations

    Kölker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Boneh, A., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., García Cazorla, A., Goodman, S. I., Koeller, D. M., Kyllerman, M., Mühlhausen, C., Müller, E., Okun, J. G., Wilcken, B., Hoffmann, G. F. & Burgard, P., 2011, In: Journal of inherited metabolic disease. 34, 3, p. 677-694

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

  10. New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA

    Aires, C. C. P., van Cruchten, A., Ijlst, L., de Almeida, I. T., Duran, M., Wanders, R. J. A. & Silva, M. F. B., 2011, In: Journal of hepatology. 55, 2, p. 426-434

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

  11. Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway

    Luís, P. B. M., Ruiter, J. P. N., Ijlst, L., Tavares de Almeida, I., Duran, M., Mohsen, A-W., Vockley, J., Wanders, R. J. A. & Silva, M. F. B., 2011, In: Drug metabolism and disposition: the biological fate of chemicals. 39, 7, p. 1155-1160

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

  12. Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation

    Luís, P. B. M., Ruiter, J. P., Ofman, R., Ijlst, L., Moedas, M., Diogo, L., Garcia, P., de Almeida, I. T., Duran, M., Wanders, R. J. & Silva, M. F. B., 2011, In: Biochemical pharmacology. 82, 11, p. 1740-1746

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

Previous 1 2 3 4 5 6 7 8 ...23 Next

ID: 53781