Author:
Ponzone A.,Guardamagna O.,Spada M.,Ferraris S.,Ponzone R.,Kierat L.,Blau N.
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Reference28 articles.
1. Arai N, Narisawa K, Hayakawa H, Tada K (1982) Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots. Pediatrics 70:426–430
2. Blau N (1988) Inborn errors of tetrahydrobiopterin metabolism. Ann Rev Nutr 8:185–209
3. Blau N, (1992) Guidelines for the screening for hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Cro Med J 33:17–22
4. Blau N, Curtius H-C, Kuster T, Matasovic A, Schoedon G, Dhondt J-L, Guibaud F, Giudici T, Blaskovics M (1989) Primapterinuria: a new variant of atypical phenylketonuria. J Inherited Metab Dis 12: [Suppl 2]:335–338
5. Cotton RGH, Jennings I, Bracco G, Ponzone A, Guardamagna O (1986) Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein. J Inherited Metab Dis 9:239–243
Cited by
36 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