Subject
Genetics(clinical),Genetics
Reference30 articles.
1. Arai, N., Narisawa, K., Hayakawa, H. and Tada, K. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.Pediatrics 70 (1982) 426–430
2. Armstrong, R. A., Sahota, A., Blair, J. A. and Cohen, B. E. Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation.J. Inher. Metab. Dis. 9 (1986) 400–401
3. Bartholomé, K. A new molecular defect in phenylketonuria.Lancet 2 (1974) 1580
4. Blau, N., Dhondt, J. L., Guibaud, P., Kuster, T. and Curtius, H. C. New variant of hyperphenylalaninemia with excretion of 7-substituted pterins.Eur. J. Pediatr. 148 (1988) 176
5. Curtius, H. C., Niederwieser, A., Viscontini, M., Otten, A., Schaub, J. Scheibenreiter, S. and Schmidt, H. Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.Clin. Chim. Acta 93 (1979) 251–262
Cited by
31 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献