๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene

โœ Scribed by Nenad Blau,Caroline Bernegger,Fritz K. Trefz


Book ID
113042557
Publisher
Springer
Year
2003
Tongue
English
Weight
155 KB
Volume
162
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Alterations in protein aggregation and d
โœ Paula J. Waters; Michael A. Parniak; A. Stacy Hewson; Charles R. Scriver ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 431 KB ๐Ÿ‘ 2 views

Phenylalanine hydroxylase (PAH) catalyzes the conversion of phenylalanine to tyrosine; its activity is the major determinant of phenylalanine disposal. Mutations in the corresponding human gene (PAH), which encodes the human hepatic PAH enzyme, result in hyperphenylalaninemia; the resulting phenotyp