Research output per year
Research output per year
Personal profile
specialisation
dietetics, inborn errors of metabolism
Research interests
Inborn/ Inherited Metabolic Diseases, PKU, Galactosemia, Long Chain Fatty acid oxidation disorders, AMACR deficiency, Adult Refsum Disease, Gyrate Atrophy, Nutritional Assessment
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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 others, Sept 2022, In: Journal of inherited metabolic disease. 45, 5, p. 952-962 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access2 Citations (Scopus) -
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)
Balfoort, B. M., Buijs, M. J. N., ten Asbroek, A. L. M. A., Bergen, A. A. B., Boon, C. J. F., Ferreira, E. A., Houtkooper, R. H., Wagenmakers, M. A. E. M., Wanders, R. J. A., Waterham, H. R., Timmer, C., van Karnebeek, C. D. & Brands, M. M., 1 Sept 2021, In: Molecular Genetics and Metabolism. 134, 1-2, p. 96-116 21 p.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access10 Citations (Scopus) -
Cutane toediening essentiële vetzuren bij vetzuurdeficiëntie
Translated title of the contribution :Cutaneous administration of essential fatty acids in fatty acid deficiency Research output: Contribution to journal › Article › Professional
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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
Open Access7 Citations (Scopus) -
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation
Coene, K. L. M., Timmer, C., Goorden, S. M. I., ten Hoedt, A. E., Kluijtmans, L. A. J., Janssen, M. C. H., Rennings, A. J. M., Prinsen, H. C. M. T., Wamelink, M. M. C., Ruijter, G. J. G., Körver-Keularts, I. M. L. W., Heiner-Fokkema, M. R., van Spronsen, F. J., Hollak, C. E., Vaz, F. M., Bosch, A. M. & Huigen, M. C. D. G., 1 Mar 2021, In: JIMD reports. 58, 1, p. 70-79 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access6 Citations (Scopus)