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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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
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Research
On-line přístup: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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