(二)二氢蝶啶还原酶缺乏症(deficiency of dihydropteridine reductase)(三)高苯丙氨酸血症(hyperphenylalaninemia)(四)高酪氨酸血症(hypertyrosinemia)二、支链氨基酸代谢病
双语例句
1
All cases were diagnosed as BH4 deficiency by analysis of urinary pterins profile, BH4 loading test, and determination of dihydropteridinereductase in RBC.