[O-05] Oral Session 05

[O-05-2] The first Japanese case of B4GALNT1-related disorder

^○Katsuya Nakamura^1,2, Naomi Tsuchida³, Jin-ichi Inoguchi⁴, Tomomi Kojima¹, Junji Ikeda², Minori Kodaira², Kei-ichiro Inamori⁴, Masakazu Nagafuku⁴, Takahiro Nita⁴, Noriyoshi Manabe⁵, Shiho Ohno⁵, Yoshiki Yamaguchi⁵, Akiyoshi Shimohata⁶, Naomichi Matsumoto³, Tomoki Kosho^1,7, Yoshiki Sekijima² (1.Center for Medical Genetics, Shinshu University Hospital, Japan, 2.Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan, 3.Department of human genetics, Yokohama City University Graduate School of Medicine, 4.Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, 5.Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, 6.Department of Neurology, Gifu University Graduate School of Medicine, 7.Department of Medical Genetics, Shinshu University School of Medicine)