dr. S.C.J. Huijbregts

s.c.j.huijbregts med.umcg.nl


  1. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

    Huijbregts, S. C. J., Bosch, A. M., Simons, Q. A., Jahja, R., Brouwers, M. C. G. J., De Sonneville, L. M. J., De Vries, M. C., Hofstede, F. C., Hollak, C. E. M., Janssen, M. C. H., Langendonk, J. G., Rubio-Gozalbo, M. E., Van der Meere, J. J., Van der Ploeg, A. T. & Van Spronsen, F. J., Sep-2018, In : Molecular Genetics and Metabolism. 125, 1-2, p. 96-103 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients

    van Ginkel, W. G., Jahja, R., Huijbregts, S. C. J. & van Spronsen, F. J., 2017, Hereditary tyrosinemia: pathogenesis, screening and management. Tanguay, RM. (ed.). Springer International Publishing AG, p. 111-122 12 p. (Advances in Experimental Medicine and Biology; vol. 959).

    Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

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