所有患者均经尿蝶呤谱分析、BH4口服负荷试验及红细胞二氢蝶呤还原酶测定，确诊为BH4缺乏症。
All cases were diagnosed as BH4 deficiency by analysis of urinary pterins profile, BH4 loading test, and determination of dihydropteridine reductase in RBC.
所有患者均经尿蝶呤谱分析、BH4口服负荷试验及红细胞二氢蝶呤还原酶测定，确诊为BH4缺乏症。
All cases were diagnosed as BH4 deficiency by analysis of urinary pterins profile, BH4 loading test, and determination of dihydropteridine reductase in RBC.
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