## Communicated by Randy Eisensmith Dihydropteridine reductase (DHPR) is an enzyme involved in recycling of tetrahydrobiopterin (BH 4 ), the cofactor of the aromatic amino acid hydroxylases. Its deficiency is characterized by hyperphenylalaninemia due to the secondary defect of phenylalanine hydro
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Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients
β Scribed by Hiroyuki Ikeda; Y. Matsubara; Hitoshi Mikami; Shigeo Kure; Misao Owada; Tamara Gough; Peter M. Smooker; Marion Dobbs; Hans-Henrik M. Dahl; Richard G. H. Cotton; Kuniaki Narisawa
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 85 KB
- Volume
- 100
- Category
- Article
- ISSN
- 0340-6717
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