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American Journal of Human Genetics|May 12, 2021
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorderEva Morava, Ulrich A Schatz, Pernille M Torring, et al.American Journal of Human Genetics|January 19, 2022
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorderNuno Maia, Sven Potelle, Hamide Yildirim, et al.Nature|August 20, 2025
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasiaJean Jacobs, Hristiana Lyubenova, Sven Potelle, et al.Pageof 2