221 - 229 out of 229Page size: 10
  1. 1993

  2. Phenylpyruvate, fetal damage, and maternal phenylketonuria syndrome

    Dorland, L., Poll-The, B. T., Duran, M., Smeitink, J. A. & Berger, R., 1993, In: Lancet. 341, 8856, p. 1351-1352

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

  3. Sudden infant death associated with defective oxidative phosphorylation

    Smeitink, J. A., Fischer, J. C., Ruitenbeek, W., Duran, M., Hofkamp, M., Bentlage, H. A. & Poll-The, B. T., 1993, In: Lancet. 341, 8860, p. 1601

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

  4. 1991

  5. 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment

    Duran, M., Wanders, R. J., de Jager, J. P., Dorland, L., Bruinvis, L., Ketting, D., IJlst, L. & van Sprang, F. J., 1991, In: European journal of pediatrics. 150, 3, p. 190-195

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

  6. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients

    Wanders, R. J., IJlst, L., Duran, M., Jakobs, C., de Klerk, J. B., Przyrembel, H., Rocchiccioli, F. & Aubourg, P., 1991, In: Journal of inherited metabolic disease. 14, 3, p. 325-328

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

  7. 1990

  8. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation

    Wanders, R. J., IJlst, L., van Gennip, A. H., Jakobs, C., de Jager, J. P., Dorland, L., van Sprang, F. J. & Duran, M., 1990, In: Journal of inherited metabolic disease. 13, 3, p. 311-314

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

  9. Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method

    Wanders, R. J., Zoeters, P. H., Schutgens, R. B., de Klerk, J. B., Duran, M., Wadman, S. K., van Sprang, F. J., Hemmes, A. M. & Voorbrood, B. S., 1990, In: Clinica chimica acta; international journal of clinical chemistry. 189, 3, p. 327-334

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

  10. 1989

  11. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase

    Wanders, R. J., Duran, M., IJlst, L., de Jager, J. P., van Gennip, A. H., Jakobs, C., Dorland, L. & van Sprang, F. J., 1989, In: Lancet. 2, 8653, p. 52-53

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

  12. 1988

  13. Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

    Poll-The, B. T., Bonnefont, J. P., Ogier, H., Charpentier, C., Pelet, A., Le Fur, J. M., Jakobs, C., Kok, R. M., Duran, M. & Divry, P., 1988, In: Journal of inherited metabolic disease. 11, Suppl. 2, p. 183-185

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

  14. 1985

  15. Neuropathological findings in a case of combined deficiency of sulphite oxidase and xanthine dehydrogenase

    Barth, P. G., Beemer, F. A., Cats, B. P., Duran, M. & Wadman, S. K., 1985, In: Virchows Archiv. A, Pathological anatomy and histopathology. 408, 1, p. 105-106

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

Previous 1...19 20 21 22 23 Next

ID: 53781