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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Publicat a:Orphanet J Rare Dis
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Research
Accés en línia: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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