Cognitive outcome of classic infantile Pompe patients receiving enzyme therapy

por Ebbink, BJ, Aarsen, FK, van Gelder, CM, van den Hout, JMP, Weisglas-Kuperus, N, Jaeken, J, Lequin, MH, Arts, WFM, van der Ploeg, AT
Publicado 2013

ALG11-CDG: Three novel mutations and further characterization of the phenotype

por Regal, L., van Hasselt, P.M., Foulquier, F., Cuppen, I., Prinsen, HCMT, Jansen, K., Keldermans, L., De Meirleir, L., Matthijs, G., Jaeken, J.
Publicado 2014

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

por Pascoal, C., Ferreira, I., Teixeira, C., Almeida, E., Slade, A., Brasil, S., Francisco, R., Ligezka, A. N., Morava, E., Plotkin, H., Jaeken, J., Videira, P. A., Barros, L., dos Reis Ferreira, V.
Publicado 2022

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

por van Capelle, C. I., van der Meijden, J. C., van den Hout, J. M. P., Jaeken, J., Baethmann, M., Voit, T., Kroos, M. A., Derks, T. G. J., Rubio-Gozalbo, M. E., Willemsen, M. A., Lachmann, R. H., Mengel, E., Michelakakis, H., de Jongste, J. C., Reuser, A. J. J., van der Ploeg, A. T.
Publicado 2016