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Differential diagnosis of tetrahydrobiopterin deficiency

✍ Scribed by A. Niederwieser; A. Ponzone; H. -Ch. Curtius

Publisher
Springer
Year
1985
Tongue
English
Weight
793 KB
Volume
8
Category
Article
ISSN
0141-8955

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Molecular genetics of tetrahydrobiopteri
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
✍ 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