Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase that catalyzes the conversion of phenylalanine to tyrosine, using tetrahydrobiopterin (BH4) as coenzyme. Besides dietary phenylalanine restriction, new therapeutic options are e...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Scala, Iris, Concolino, Daniela, Casa, Roberto Della, Nastasi, Anna, Ungaro, Carla, Paladino, Serena, Capaldo, Brunella, Ruoppolo, Margherita, Daniele, Aurora, Bonapace, Giuseppe, Strisciuglio, Pietro, Parenti, Giancarlo, Andria, Generoso
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4351928/
https://ncbi.nlm.nih.gov/pubmed/25757997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0227-8
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados