## Communicated by Ronald J.A. Wanders Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU). Tetrahydrobiopterin (BH 4 )-responsive hyperphenylalaninemia has been recently described as a variant of PAH deficiency caused by specific mutations in the PAH gene. It has
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
✍ Scribed by Marcel R. Zurflüh; Johannes Zschocke; Martin Lindner; François Feillet; Céline Chery; Alberto Burlina; Raymond C. Stevens; Beat Thöny; Nenad Blau
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 74 KB
- Volume
- 29
- Category
- Article
- ISSN
- 1059-7794
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