Phenylalanine hydroxylase deficiency: diagnosis and management guideline
β Scribed by Vockley, Jerry; Andersson, Hans C.; Antshel, Kevin M.; Braverman, Nancy E.; Burton, Barbara K.; Frazier, Dianne M.; Mitchell, John; Smith, Wendy E.; Thompson, Barry H.; Berry, Susan A.
- Book ID
- 125816492
- Publisher
- Nature Publishing Group
- Year
- 2013
- Tongue
- English
- Weight
- 490 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1098-3600
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Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gene has been defined for the Chilean phenylketonuria (PKU) population. Mutation analysis was performed using a combined approach of screening for common European and Oriental mutations and application
## 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