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

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

Melatonin in neuropaediatric MRI: a retrospective study of efficacy in a general hospital setting

Heida, E. J. E., Lunsing, R. J., Brouwer, O. F. & Meiners, L. C., mrt-2020, In: European Journal of Paediatric Neurology. 25, blz. 172-180 9 blz.

Onderzoeksoutput › Academic › peer review

A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis

Jean-Marcais, N., Olson, H. E., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E., Sinnema, M., Reijnders, M. R. F., Bearden, D., Lunsing, R. J., Burglen, L., Lesca, G., Smith, L. A., Sheidley, B., Pearl, P. L., El Achkar, C. M. & 24 anderen, Poduri, A., Skraban, C. M., Nesbitt, A. I., van de Putte, D. E. F., Ruivenkamp, C. A. L., Rump, P., Sabatier, I., Sweetser, D. A., Waxler, J. L., Tarpinian, J., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Lelieveld, S. H., Schuurs-Hoeijmakers, J., Brunner, H. G., Keren, B., Mau-Them, F. T., Thevenon, J., Faivre, L., Thomas, G. & Thauvin-Robinet, C., jul-2019, In: European Journal of Human Genetics. 27, blz. 853-854 2 blz.

Onderzoeksoutput › Academic

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Groeneweg, S., Peeters, R. P., Moran, C., Stoupa, M. A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., van der Walt, A., de Coo, I. F. M., McGowan, A., Lyons, G., Aarsen, R. F. K., Barca, P. D., van Beynu, I. M., van der Knoop, M. M., Jansen, J., Manshande, M. & 26 anderen, Lunsing, R. J., Nowak, S., den Uil, C. A., Zillikens, M. C., Visser, F. E., Vrijoeth, P., de Wit, M. C. Y., Wolf, N., Zandstra, A., Abegaonkar, G., Singh, Y., de Rijke, Y. B., Medici, M., Bertini, E. S., Depoorter, S., Lebl, J., Cappa, M., De Meirleir, L., Krude, H., Craiu, D., Zibordi, F., Petit, I. O., Polak, M., Chatterjee, K., Visser, T. J. & Visser, W. E., sep-2019, In: Lancet Diabetes & Endocrinology. 7, 9, blz. 695-706 12 blz.

Onderzoeksoutput › Academic › peer review