Clinical and biochemical study for the diagnosis, treatment and prenatal diagnosis of tetrahydrobiopterin deficiency due to 6 pyruvoyl tetrahydropterin synthase deficiency
- VernacularTitle: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
- Author:
Yanling YANG
;
Yu QI
;
Chunyan SHI
;
- Publication Type:Journal Article
- Keywords:
Alcohol oxidoreductases;
Biopterin;
Phenylalanine;
Neonatal screening;
Prenataldiag nosis
- From:
Chinese Journal of Perinatal Medicine
2003;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
G) in PTPS gene were identified in 7 families. The third fetus from two families were not affected by PTPS deficiency.
