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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...
Zapisane w:
| Wydane w: | Proc Natl Acad Sci U S A |
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| Główni autorzy: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
National Academy of Sciences
2004
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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