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...

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Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
Soggetti:
Research
Accesso online: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
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