PMID34652821

SLigezka, A. N., Radenkovic, S., Saraswat, M., Garapati, K., Ranatunga, W., Krzysciak, W., Yanaihara, H., Preston, G., Brucker, W., McGovern, R. M., Reid, J. M., Cassiman, D., Muthusamy, K., Johnsen, C., Mercimek-Andrews, S., Larson, A., Lam, C., Edmondson, A. C., Ghesquière, B., Witters, P., … Morava, E. (2021). Sorbitol is a severity biomarker for PMM2-CDG with therapeutic implications. Annals of neurology. 90, 887–900. [PubMed]