Clinical and biochemical study for the diagnosis, treatment and prenatal diagnosis of tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency

• 6-丙酮酰四氢蝶呤合成酶缺乏致四氢生物蝶呤缺乏症的诊断、治疗与产前诊断研究