Original article Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs

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作者： Kim, WooJoong ^[1] ; Cho, Jae So ^[2] ; Shim, Young Kyu ^[3] ; Ko, Young Jun ^[4] ; Choi, Sun Ah ^[5] ; Kim, Soo Yeon ; Kim, Hunmin ; Lim, Byung Chan ; Hwang, Hee ; Choi, Jieun ; Kim, Ki Joong ; Kim, Man Jin ; Seong, Moon-Woo ; Chae, Jong-Hee

作者单位： Seoul Natl Univ Hosp, Dept Lab Med, Seoul, South Korea ^[1] Seoul Natl Univ, Pediat Clin Neurosci Ctr, Dept Pediat, Childrens Hosp,Coll Med, Seoul, South Korea ^[2] SMG SNU Boramae Hosp, Dept Pediat, Seoul, South Korea ^[3] Seoul Natl Univ Hosp, Rare Dis Ctr, Seoul, South Korea ^[4] Seoul Natl Univ, Dept Pediat, Bundang Hosp, Seoul, South Korea ^[5]

关键词 Guanosine triphosphate cyclohydrolase 1 Dopa-responsive dystonia Segawa disease Residual motor signs Diagnostic delay

发布时间 2021-11-26

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