Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

Phenylketonuria patients harboring a subset of phenylalanine hydroxylase (PAH) mutations have recently shown normalization of blood phenylalanine levels upon oral administration of the PAH cofactor tetrahydrobiopterin [(6R)-l-erythro-5,6,7,8-tetrahydrobiopterin (BH(4))]. Several hypotheses have been...

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Detaylı Bibliyografya
Yayımlandı:Proc Natl Acad Sci U S A
Asıl Yazarlar: Erlandsen, Heidi, Pey, Angel L., Gámez, Alejandra, Pérez, Belén, Desviat, Lourdes R., Aguado, Cristina, Koch, Richard, Surendran, Sankar, Tyring, Stephen, Matalon, Reuben, Scriver, Charles R., Ugarte, Magdalena, Martínez, Aurora, Stevens, Raymond C.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 2004
Konular:
Biological Sciences
Online Erişim:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC534739/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15557004/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0407256101
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