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Article

A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria.

American journal of physiology. Gastrointestinal and liver physiology - 1 Jun 2005

Abitbol Marie, Bernex Florence, Puy Hervé, Jouault Hélène, Deybach Jean-Charles, Guénet Jean-Louis, Montagutelli Xavier

Abstract excerpt

Erythropoietic protoporphyria is an inherited disorder of heme biosynthesis caused by partial ferrochelatase deficiency, resulting in protoporphyrin (PP) overproduction by erythrocytes. In humans, it is responsible for painful skin photosensitivity and, occasionally, liver failure due to accumulation of PP in the liver. The ferrochelatase deficiency mouse mutation is the best animal model available for human...

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Identifiers

PMID: 15677551
DOI: 10.1152/ajpgi.00505.2004

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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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