Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

by Akula, S.K, Attié-Bitach, T., de Brouwer, A.P.M, Duvet, S., Fortuna, A.M, Foulquier, F., Gheldof, A., Jansen, A.C, Jorge, P., Lai, A., Loget, P., Maia, N., Nassogne, M.-C, O'Kane, K., Potelle, S., Proisy, M., Quelin, C., Schulz, C., Sermon, K., Soares, A.R, Stouffs, K., Van Schaftingen, E., Walsh, C.A, Wiame, E., Yildirim, H.
Published 2022