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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art

✍ Scribed by Leo J.M Spaapen; M Estela Rubio-Gozalbo

Book ID
117735478
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
197 KB
Volume
78
Category
Article
ISSN
1096-7192

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✍ Marcel R. ZurflΓΌh; Johannes Zschocke; Martin Lindner; FranΓ§ois Feillet; CΓ©line C πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 309 KB

## 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