A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report

por Lebredonchel, E., Riquet, A., Neut, D., Broly, F., Matthijs, G., Klein, A., Foulquier, F.
Publicado 2022

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