White matter abnormalities in an adult patient with L-2-hydroxyglutaric aciduria

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作者： Yamamoto, Toshiyuki ^[1] ; Yoshioka, Seiichiro ^[2] ; Tsurusaki, Yoshinori ^[3] ; Shino, Shimada ^[4] ; Shimojima, Keiko ; Shigematsu, Yosuke ; Takeuchi, Yoshihiro ; Matsumoto, Naomichi

作者单位： Univ Fukui, Fac Med Sci, Dept Hlth Sci, Fukui, Japan ^[1] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 232, Japan ^[2] Tokyo Womens Med Univ, Inst Integrated Med Sci, Tokyo 1628666, Japan ^[3] Shiga Med Univ, Dept Pediat, Otsu, Shiga, Japan ^[4]

关键词 L-2-Hydroxyglutaric aciduria (L-2-HGA)L2HGDH Subcortical white matter abnormalities Genotype-first approach Clinical exome sequencing

发布时间 2016-04-19

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