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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 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

Exposure to dim light at night alters daily rhythms of glucose and lipid metabolism in rats

Rumanova, V. S., Okuliarova, M., Foppen, E., Kalsbeek, A. & Zeman, M., 29 Aug 2022, In: Frontiers in physiology. 13, 973461.

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

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation

Hu, Y., Lauffer, P., Stewart, M., Codner, G., Mayerl, S., Heuer, H., Ng, L., Forrest, D., van Trotsenburg, P., Jongejan, A., Fliers, E., Hennekam, R. & Boelen, A., 25 Aug 2022, In: Human molecular genetics. 31, 17, p. 2951-2963 13 p.

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

Explaining unexplained hypoglycemia: How LC-MS/MS can help

Ackermans, M. T., Hopman, J., Heijboer, A. C. & Siegelaar, S. E., 1 Aug 2022, In: Practical Laboratory Medicine. 31, e00291.

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

High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia

Haring, M. P. D., Peeks, F., Oosterveer, M. H., Brouwers, M. C. G. J., Hollak, C. E. M., Janssen, M. C. H., Langendonk, J. G., Rennings, A. J. M., Wagenmakers, M. A. E. M., Verkade, H. J., Derks, T. G. J. & de Meijer, V. E., 1 Aug 2022, In: JHEP Reports. 4, 8, 100512.

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

Implementation of functional imaging using 11C-methionine PET-CT co-registered with MRI for advanced surgical planning and decision making in prolactinoma surgery

Bakker, L. E. H., Verstegen, M. J. T., Ghariq, E., Verbist, B. M., Schutte, P. J., Bashari, W. A., Kruit, M. C., Pereira, A. M., Gurnell, M., Biermasz, N. R., van Furth, W. R. & Bouda, L. M. P. A., 1 Aug 2022, In: Pituitary. 25, 4, p. 587-601 15 p.

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

Clinical and radiographic assessment of peripheral joints in controlled acromegaly

Pelsma, I. C. M., Kroon, H. M., van Trigt, V. R., Pereira, A. M., Kloppenburg, M., Biermasz, N. R. & Claessen, K. M. J. A., Aug 2022, In: Pituitary. 25, 4, p. 622-635 14 p.

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

Long-term effects of glucocorticoid excess on the brain

Dekkers, A. J., Amaya, J. M., van der Meulen, M., Biermasz, N. R., Meijer, O. C. & Pereira, A. M., Aug 2022, In: Journal of neuroendocrinology. 34, 8, e13142.

Research output: Contribution to journal › Review article › Academic › peer-review

Costs and Its Determinants in Pituitary Tumour Surgery

Dekkers, A. J., de Vries, F., Najafabadi, A. H. Z., van der Hoeven, E. M., Verstegen, M. J. T., Pereira, A. M., van Furth, W. R. & Biermasz, N. R., 7 Jul 2022, In: Frontiers in endocrinology. 13, 905019.

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

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Wasserstein, M., Lachmann, R., Hollak, C., Arash-Kaps, L., Barbato, A., Gallagher, R. C., Giugliani, R., Guelbert, N. B., Ikezoe, T., Lidove, O., Mabe, P., Mengel, E., Scarpa, M., Senates, E., Tchan, M., Villarrubia, J., Chen, Y., Furey, S., Thurberg, B. L., Zaher, A., & 1 othersKumar, M., 1 Jul 2022, In: Genetics in medicine. 24, 7, p. 1425-1436 12 p.

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