二氢蝶啶还原酶缺乏症 deficiency of dihydropteridine reductase
谷胱甘肽还原酶缺乏症 glutathione reductase deficiency
二氢叶酸还原酶缺乏症 dihydrofolate reductase deficiency
还原酶缺乏症
Reductase deficiency
以上为机器翻译结果，长、整句建议使用 人工翻译 。
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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