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Article

New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.

European journal of pediatrics - 1 Oct 2000

Schneider-Yin X, Gouya L, Meier-Weinand A, Deybach J C, Minder E I

Abstract excerpt

UNLABELLED: Erythropoietic protoporphyria (EPP, MIM 177000) is an inherited disorder caused by a partial deficiency of ferrochelatase (FECH) which catalyses the chelation of iron into protoporphyrin to form haem. The majority of EPP patients experience solely a painful photosensitivity whereas a...

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Source

Identifiers

PMID: 11039124
DOI: 10.1007/s004310000494

Genes

FECH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11039124-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.PMID 11039124Read ↗

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Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.Semantic proximity Read ↗

A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.Semantic proximity Read ↗

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Clinical implications of the molecular biology of erythropoietic protoporphyria.Semantic proximity Read ↗

Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.Semantic proximity Read ↗

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