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Article

A murine model for human sepiapterin-reductase deficiency.

American journal of human genetics - 1 Apr 2006

Yang Seungkyoung, Lee Young Jae, Kim Jin-Man, Park Sean, Peris Joanna, Laipis Philip, Park Young Shik, Chung Jae Hoon, Oh S Paul

Abstract excerpt

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 of nitric oxide, catecholamines, and serotonin. BH(4) deficiency has been shown to be closely associated with diverse...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16532389
DOI: 10.1086/501372
PMCID: PMC1424682

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SPR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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