Journal of Inherited Metabolic Disease, 0141-8955

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  1. Dietary lipids in glycogen storage disease type III: a systematic literature study, case studies and future recommendations

    Rossi, A., Hoogeveen, I. J., Bastek, V. B., de Boer, F., Montanari, C., Meyer, U., Maiorana, A., Bordugo, A., Dianin, A., Campana, C., Rigoldi, M., Kishnani, P. S., Pendyal, S., Strisciuglio, P., Gasperini, S., Parenti, G., Parini, R., Paci, S., Melis, D. & Derks, T. G. J., 16-Feb-2020, In : Journal of Inherited Metabolic Disease. 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency

    Bleeker, J. C., Visser, G., Clarke, K., Ferdinandusse, S., de Haan, F. H., Houtkooper, R. H., IJlst, L., Kok, I. L., Langeveld, M., van der Pol, W. L., de Sain-van der Velden, M. G. M., Sibeijn-Kuiper, A., Takken, T., Wanders, R. J. A., van Weeghel, M., Wijburg, F. A., van der Woude, L. H., Wüst, R. C. I., Cox, P. J. & Jeneson, J. A. L., 18-Jan-2020, In : Journal of Inherited Metabolic Disease. 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 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., Mar-2020, In : Journal of Inherited Metabolic Disease. 43, 2, p. 279-289 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. 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. 43, 2, p. 244-250 20 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach

    Evers, R. A. F., van Vliet, D. & van Spronsen, F. J., Mar-2020, In : Journal of Inherited Metabolic Disease. 43, 2, p. 189-199 11 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

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