Journal of Inherited Metabolic Disorders, 2192-8304

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  1. Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency

    Diekman, E. F., Boelen, C. C. A., Prinsen, B. H. C. M. T., Ijlst, L., Duran, M., de Koning, T. J., Waterham, H. R., Wanders, R. J. A., Wijburg, F. A. & Visser, G., 2013, In : Journal of Inherited Metabolic Disorders. 7, p. 1-6 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase

    Heitink-Pollé, K. M. J., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M. & Bierings, M. B., 2013, In : Journal of Inherited Metabolic Disorders. 7, p. 103-108 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. D-serine influences synaptogenesis in a p19 cell model

    Fuchs, S. A., Roeleveld, M. W., Klomp, L. W. J., Berger, R. & de Koning, T. J., 2012, In : Journal of Inherited Metabolic Disorders. 6, p. 47-53 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy

    de Sain-van der Velden, M. G. M., Rinaldo, P., Elvers, B., Henderson, M., Walter, J. H., Prinsen, B. H. C. M. T., Verhoeven-Duif, N. M., de Koning, T. J. & van Hasselt, P., 2012, In : Journal of Inherited Metabolic Disorders. 6, p. 95-99 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?

    van Dam, E., Daly, A., Venema-Liefaard, G., van Rijn, M., Derks, T. G. J., McKiernan, P. J., Heiner-Fokkema, R., MacDonald, A. & van Spronsen, F. J., 25-Jan-2017, In : Journal of Inherited Metabolic Disorders. p. 49-57 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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