Journal of Inherited Metabolic Disease, 0141-8955

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  1. Research priorities for liver glycogen storage disease: an international priority setting partnership with the James Lind Alliance

    Peeks, F., Boonstra, W. F., de Baere, L., Carøe, C., Casswall, T., Cohen, D., Cowan, K., Ferrecchia, I., Ferriani, A., Gimbert, C., Landgren, M., Maldonado, N. L., McMillan, J., Nemeth, A., Seidita, N., Stachelhaus-Theimer, U., Weinstein, D. A. & Derks, T., 2019, In : Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. The first European guidelines on phenylketonuria: its usefulness and implications for BH4 responsiveness testing

    Evers, R. A. F., van Wegberg, A. M. J., Anjema, K., Lubout, C. M. A., van Dam, E., van Vliet, D., Blau, N. & van Spronsen, F. J., 10-Sep-2019, In : Journal of Inherited Metabolic Disease. 20 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach

    Evers, R. A. F., van Vliet, D. & van Spronsen, F. J., 1-Aug-2019, In : Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalReview articleAcademicpeer-review

  4. The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review

    Burlina, A. P., Lachmann, R. H., Manara, R., Cazzorla, C., Celato, A., van Spronsen, F. J. & Burlina, A., Mar-2019, In : Journal of Inherited Metabolic Disease. 42, 2, p. 209-219 11 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  5. Increased human dermal microvascular endothelial cell survival induced by cysteamine

    Besouw, M., van den Heuvel, L., van Eijsden, R., Bongaers, I., Kluijtmans, L., Dewerchin, M. & Levtchenko, E., Nov-2013, In : Journal of Inherited Metabolic Disease. 36, 6, p. 1073-1077 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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