Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications

Anna N. Ligezka, Silvia Radenkovic, Mayank Saraswat, Kishore Garapati, Wasantha Ranatunga, Wirginia Krzysciak, Hitoshi Yanaihara, Graeme Preston, William Brucker, Renee M. McGovern, Joel M. Reid, David Cassiman, Karthik Muthusamy, Christin Johnsen, Saadet Mercimek-Andrews, Austin Larson, Christina Lam, Andrew C. Edmondson, Bart Ghesquière, Peter WittersKimiyo Raymond, Devin Oglesbee, Akhilesh Pandey, Ethan O. Perlstein, Tamas Kozicz, Eva Morava

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Medicine & Life Sciences