hyperphenylalaninaemia相关论文
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase defici
Background: This study aimed to investigate the mutation spectrum of the QDPR gene, to determine the effect of mutations......
[目的]总结四氢生物蝶呤(tetrahydrobiopterin,BH4)缺乏症的临床表现、诊断及治疗,以期为BH4缺乏症的早期诊断及治疗提供依据.[方......
