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。

  • 互联网摘选 2026-07-14 01:43:05

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