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Article

Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.

Archives of dermatology - 1 Sept 2007

Herrero Carmen, To-Figueras Jordi, Badenas Celia, Méndez Manuel, Serrano Patricia, Enríquez-Salamanca Rafael, Lecha Mario

Abstract excerpt

OBJECTIVE: To study the mutations in the ferrochelatase gene (FECH) and the phenotypic expression of erythropoietic protoporphyria (EPP) in a group of Spanish patients. DESIGN: Case series. SETTING: University-based hospital. PATIENTS: Eleven unrelated patients with EPP and 19 asymptomatic relatives from 10 families. MAIN OUTCOMES MEASURES: Measurement of protoporphyrin concentration in red blood cells and feces...

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

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Source

Identifiers

PMID: 17875872
DOI: 10.1001/archderm.143.9.1125

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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Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.PMID 17875872Read ↗

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