학술논문
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
Document Type
Article
Author
Maia, N.; Fortuna, A.M.; Soares, A.R.; Jorge, P.; Potelle, S.; Wiame, E.; Van Schaftingen, E.; Yildirim, H.; Jansen, A.C.; Duvet, S.; Schulz, C.; Foulquier, F.; Akula, S.K.; O'Kane, K.; Lai, A.; Walsh, C.A.; Gheldof, A.; Stouffs, K.; Sermon, K.; Proisy, M.; Loget, P.; Attié-Bitach, T.; Quelin, C.; de Brouwer, A.P.M.; Nassogne, M.-C.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 February 2022, 109(2):345-360)
Subject
Language
English
ISSN
15376605
00029297
00029297