Methods One hundred patients with unknown motor disturbance and mental retardation were referred to this study. All patients were performed by phenylalanine ( Phe) and BH4 loading test, urinary pterin analysis and dihydropteridine reductase ( DHPR) activity.

  • 方法对100例运动及智能障碍患者进行苯丙氨酸(phenylalanine,Phe)及BH4负荷试验、尿蝶呤谱分析、红细胞二氢蝶啶还原酶测定,并对部分患者进行多巴治疗性诊断;

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