Author:
Vatanavicharn N.,Kuptanon C.,Liammongkolkul S.,Liu T.-T.,Hsiao K.-J.,Ratanarak P.,Blau N.,Wasant P.
Subject
Genetics(clinical),Genetics
Reference12 articles.
1. Blau N, Thöny B, Cotton RGH, Hyland K (2001) Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds); Childs B, Kinzler KW, Vogelstein B (assoc. eds). The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp, 1725–1776
2. Bürgisser DM, Thöny B, Redweik U, Hess D, Heizmann CW, Huber R, Nar H (1995) 6-Pyruvoyl-tetrahydropterin synthase, an enzyme with a novel type of active site involving both zinc binding and an intersubunit catalytic triad motif; site-directed mutagenesis of the proposed active center, characterization of the metal binding site and modelling of substrate binding. J Mol Biol 253:358–369
3. Imamura T, Okano Y, Shintaku H, Hase Y, Isshiki G (1999) Molecular characterization of 6-pyruvoyl-tetrahydrobiopterin synthase deficiency in Japanese patients. J Hum Genet 44:163–168
4. Jäggi L, Zurflüh MR, Schuler A et al (2008) Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab 93:295–305
5. Kaufman S (1993) New tetrahydrobiopterin-dependent systems. Annu Rev Nutr 13:261–286
Cited by
12 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