## 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
✦ LIBER ✦
Genotype–phenotype correlation in dihydropteridine reductase deficiency
✍ Scribed by L. de Sanctis; C. Alliaudi; M. Spada; R. Farrugia; R. Cerone; G. Biasucci; C. Meli; E. Zammarchi; T. Coskun; N. Blau; A. Ponzone; I. Dianzani
- Book ID
- 110227943
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 60 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0141-8955
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