Corrie Timmer

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay

Balfoort, B. M., Pampalone, G., Ruiter, J. P. N., Denis, S. W., Brands, M. M., Timmer, C. & GACR Bird's Eye View Consortium, 1 Sept 2024, In: Molecular Genetics and Metabolism. 143, 1-2, 108542.

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

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

van Vliet, K., van Ginkel, W. G., Jahja, R., Daly, A., MacDonald, A., Santra, S., de Laet, C., Goyens, P. J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J. R., van Hasselt, P. M., Wilcox, G., Morris, A. A. M., Jameson, E. A., & 15 othersde la Parra, A., Arias, C., Garcia, M. I., Cornejo, V., Bosch, A. M., Hollak, C. E. M., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., Hofstede, F. C., de Vries, M. C., Janssen, M. C. H., van der Ploeg, A. T., Langendonk, J. G., Huijbregts, S. C. J. & van Spronsen, F. J., Sept 2022, In: Journal of inherited metabolic disease. 45, 5, p. 952-962 11 p.

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

Differences in faecal microbiome composition between adult patients with UCD and PKU and healthy control subjects

Timmer, C., Davids, M., Nieuwdorp, M., Levels, J. H. M., Langendonk, J. G., Breederveld, M., Ahmadi Mozafari, N. & Langeveld, M., 1 Dec 2021, In: Molecular Genetics and Metabolism Reports. 29, 100794.

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