𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular genetics and diagnosis of phenylketonuria: state of the art

✍ Scribed by Blau, Nenad; Shen, Nan; Carducci, Carla


Book ID
124094041
Publisher
Expert Reviews
Year
2014
Tongue
English
Weight
826 KB
Volume
14
Category
Article
ISSN
1473-7159

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Preimplantation genetic diagnosis: State
✍ Claire Basille; RenΓ© Frydman; Abdelwahab El Aly; Laetitia Hesters; Renato Fanchi πŸ“‚ Article πŸ“… 2009 πŸ› Elsevier Science 🌐 English βš– 119 KB
Genetics and biochemistry of the phenylk
✍ K. BartholomΓ© πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 290 KB

Phenylketonuria is an autosomal recessive inherited disease caused by a disturbance in the phenylalanine hydroxylating system. Phenylalanine is converted to tyrosine by phenylalanine hydroxylase, which is located mainly in the liver. This enzyme needs the reduced cofactor tetrahydrobiopterin to be a