Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Liver disease and erythropoietic protoporphyria: a concise review.

World journal of gastroenterology - 28 Sept 2010

Casanova-González María José, Trapero-Marugán María, Jones E Anthony, Moreno-Otero Ricardo

Abstract excerpt

The porphyries are a group of metabolic disorders characterized by deficiencies in the activity of enzymes involved in the biosynthesis of heme. In erythropoietic protoporphyria (EPP), in the majority of cases an autosomal dominant disease, there is a mutation of the gene that encodes ferrochelatase (FECH). FECH deficiency is associated with increased concentrations of protoporphyrin in erythrocytes, plasma, skin...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ferrochelatase
Share to Liver Diseases
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Protoporphyria, Erythropoietic

Source

Open in PubMed Open full text

Identifiers

PMID: 20857522
DOI: 10.3748/wjg.v16.i36.4526
PMCID: PMC2945483

Genes

FECH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Liver disease and erythropoietic protoporphyria: a concise review.PMID 20857522Read ↗

Erythropoietic protoporphyriaSemantic proximity Read ↗

Erythropoietic protoporphyriaSemantic proximity Read ↗

Protoporphyria.Semantic proximity Read ↗

A case of erythrogenic protoporphyria with thyrotoxicosis and liver dysfunction in an adult female.Semantic proximity Read ↗

Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.Semantic proximity Read ↗

Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failureSemantic proximity Read ↗

Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria.Semantic proximity Read ↗

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

Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.Semantic proximity Read ↗

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.Semantic proximity Read ↗

Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.Semantic proximity Read ↗

Recessive inheritance of erythropoietic protoporphyria with liver failure.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.