The majority of patients with mild HPA and mild PKU who had the R241C allele responded to BH4 administration.
许多患轻度PKU和轻度HPA且有R241C基因位点的病人，都对BH4治疗有反应。
Patients with BH4 deficiency should be treated early with BH4 and a combination of neurotransmitter precursors.
BH4缺乏症者应尽早接受BH4及神经递质前质联合治疗。
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。
应用推荐