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Article

Animal models reveal pathophysiologies of tyrosinemias.

The Journal of nutrition - 1 Jun 2003

Endo Fumio, Tanaka Yasuhiko, Tomoeda Kaede, Tanoue Akito, Tsujimoto Gozoh, Nakamura Kimitoshi

Abstract excerpt

The activity of the enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) is regulated by transcription factors. Mutations in the HPD locus are related to two known distinct diseases: hereditary tyrosinemia type 3 and hawkinsinuria. HPD-deficient mice are a good model with which to examine the biological effects of 4-hydroxyphenylpyruvic acid, which is a keto acid that causes no apparent visceral damage. In...

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Source

Identifiers

PMID: 12771366
DOI: 10.1093/jn/133.6.2063S

Genes

HPD
FAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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