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Article

Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.

Journal of pediatric gastroenterology and nutrition - 1 Jul 2006

Bloomer Joseph R, Wang Yongming, Singhal Anuj, Risheg Hiba

Abstract excerpt

OBJECTIVES: Erythropoietic protoporphyria (EPP) is a genetic disorder in which deficient ferrochelatase (FECH) activity causes the excessive production and excretion of protoporphyrin. This in turn causes the major clinical manifestation of EPP, photosensitivity and, in some patients, hepatobiliary disease that may be severe. The objective of this study was to define genotypic determinants of phenotype in EPP....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16819399
DOI: 10.1097/01.mpg.0000226388.56612.fa

Genes

FECH

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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