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A Murine Model for Human Sepiapterin-Reductase Deficiency

Tetrahydrobiopterin (BH(4)) is an essential cofactor for several enzymes, including all three forms of nitric oxide synthases, the three aromatic hydroxylases, and glyceryl-ether mono-oxygenase. A proper level of BH(4) is, therefore, necessary for the metabolism of phenylalanine and the production o...

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Detalhes bibliográficos
Main Authors: Yang, Seungkyoung, Lee, Young Jae, Kim, Jin-Man, Park, Sean, Peris, Joanna, Laipis, Philip, Park, Young Shik, Chung, Jae Hoon, Oh, S. Paul
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1424682/
https://ncbi.nlm.nih.gov/pubmed/16532389
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