Methods Four members of a DRD family were performed phenylalanine(Phe) and BH 4 loading test as well as urinary pterin analysis. Mutation analysis of GTP cyclohydrolase 1 gene(GCH1) was done in all family members.
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- 方法 對DRD的一家系 4人進(jìn)行苯丙氨酸 (Phe)和BH4負荷試驗、尿蝶呤譜分析 ,對所有成員進(jìn)行三磷酸鳥(niǎo)苷環(huán)化水解酶 1基因 (GCH1)檢測。
