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Journal article
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia, Nuno
Potelle, Sven
[UCL]
Yildirim, Hamide
Duvet, Sandrine
Akula, Shyam K
Schulz, Celine
Wiame, Elsa
[UCL]
Gheldof, Alexander
O'Kane, Katherine
Lai, Abbe
Sermon, Karen
Proisy, Maïa
Loget, Philippe
Attié-Bitach, Tania
Quelin, Chloé
Fortuna, Ana Maria
Soares, Ana Rita
de Brouwer, Arjan P M
Van Schaftingen, Emile
[UCL]
Nassogne, Marie-Cécile
[UCL]
Walsh, Christopher A
Stouffs, Katrien
Jorge, Paula
Jansen, Anna C
Foulquier, François
(2022)
American journal of human genetics — Vol. 109, no. 2, p. 345-360 (2022)