Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Tseng, L. A., Abdenur, J. E., Andrews, A., Aziz, V. G., Bok, L. A., Boyer, M., Buhas, D., Hartmann, H., Footitt, E. J., Gronborg, S., Janssen, M. C. H., Longo, N., Lunsing, R. J., MacKenzie, A. E., Wijburg, F. A., Gospe, S. M., Coughlin, C. R. & van Karnebeek, C. D. M., apr-2022, In: Molecular Genetics and Metabolism. 135, 4, blz. 350-356 7 blz.

Onderzoeksoutput › Academic › peer review

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study

Strijker, M., Tseng, L. A., van Avezaath, L. K., Luttikhuis, M. A. M. O., Ketelaar, T., Coughlin, C. R., Coenen, M. A., van Spronsen, F. J., Williams, M., de Vries, M. C., Westerlaan, H. E., Bok, L. A., van Karnebeek, C. D. M. & Lunsing, R. J., jul-2021, In: European Journal of Paediatric Neurology. 33, blz. 112-120 9 blz.

Onderzoeksoutput › Academic › peer review

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency

Coughlin, C. R., Tseng, L. A., Abdenur, J. E., Ashmore, C., Boemer, F., Bok, L. A., Boyer, M., Buhas, D., Clayton, P. T., Das, A., Dekker, H., Evangeliou, A., Feillet, F., Footitt, E. J., Gospe, S. M., Hartmann, H., Kara, M., Kristensen, E., Lee, J., Lilje, R. & 17 anderen, Longo, N., Lunsing, R. J., Mills, P., Papadopoulou, M. T., Pearl, P. L., Piazzon, F., Plecko, B., Saini, A. G., Santra, S., Sjarif, D. R., Stockler-Ipsiroglu, S., Striano, P., Van Hove, J. L. K., Verhoeven-Duif, N. M., Wijburg, F. A., Zuberi, S. M. & van Karnebeek, C. D. M., jan-2021, In: Journal of Inherited Metabolic Disease. 44, 1, blz. 178-192 15 blz.

Onderzoeksoutput › Academic › peer review

Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy

Al-Saady, M. L., Kaiser, C. S., Wakasuqui, F., Korenke, G. C., Waisfisz, Q., Polstra, A., Pouwels, P. J. W., Bugiani, M., van der Knaap, M. S., Lunsing, R. J., Liebau, E. & Wolf, N. I., dec-2021, In: Neuropediatrics. 52, 06, blz. 489-494 6 blz.

Onderzoeksoutput › Academic › peer review

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Groeneweg, S., van Geest, F. S., Abaci, A., Alcantud, A., Ambegaonkar, G. P., Armour, C. M., Bakhtiani, P., Barca, D., Bertini, E. S., van Beynum, I. M., Brunetti-Pierri, N., Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., de Coo, I. F. M., Coutant, R., Craiu, D. & 30 anderen, Crock, P., DeGoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M. H. G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E. F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., van der Knaap, M. S., van der Knoop, M. M., Konrad, D., Koolen, D. A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C. F., Lourenco, C. M., Lunsing, R. J. & Lyons, G., jul-2020, In: Lancet Diabetes & Endocrinology. 8, 7, blz. 594-605 12 blz.

Onderzoeksoutput › Academic › peer review