以肌张力障碍为主要症状的6-丙酮酰四氢蝶呤合成酶缺乏症二例
被引量:1
摘要
6-丙酮酰四氢蝶呤合成酶(6-pyruvoyltetrahydrobiopterinsynthesis,PTPS)缺乏症是一种常染色体隐性遗传病。患者多于婴幼儿期起病,多伴有神经系统受损,表现为运动迟缓、肌张力障碍、痫性发作、智能下降等。
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2013年第3期210-211,共2页
Chinese Journal of Neurology
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