Presentation Information
[P1-09-10]Correction of Glycan Abnormalities in a Case of CDG IIc Caused by a Novel Pathogenic SCL35C1 Variant via Fucose Intake
Tadashi Kaname1, Tomoko Uehara2, Hayato Ohta3, Jun-ichi Furukawa4, Kumiko Yanagi1, Yoshiki Yamaguchi5, Shoko Nishihara3 (1. Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2. Naha City Hospital, Department of Pediatrics, Naha, Japan, 3. Glycan and Life Systems Integration Center (GaLSIC), Soka University, Tokyo, Japan, 4. Institute for Glyco-Core Research (iGCORE), Nagoya University, Nagoya, Japan, 5. Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan)
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