Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
MAN2C1 变异导致游离寡糖分解代谢受损，从而引发神经发育障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.12.010
Nuno Maia, Sven Potelle, Hamide Yildirim, Sandrine Duvet, Shyam K Akula, Celine Schulz, Elsa Wiame, Alexander Gheldof, Katherine O'Kane, Abbe Lai, Karen Sermon, Maïa Proisy, Philippe Loget, Tania Attié-Bitach, Chloé Quelin, Ana Maria Fortuna, Ana Rita Soares, Arjan P M de Brouwer, Emile Van Schaftin
