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

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

Journal of hepatology - 1 Nov 2010

Mayr Roman, Janecke Andreas R, Schranz Melanie, Griffiths William J H, Vogel Wolfgang, Pietrangelo Antonello, Zoller Heinz

Abstract excerpt

BACKGROUND & AIMS: Classical ferroportin disease is characterized by hyperferritinemia, normal transferrin saturation, and iron overload in macrophages. A non-classical form is characterized by additional hepatocellular iron deposits and a high transferrin saturation. Both forms demonstrate autosomal dominant transmission and are associated with ferroportin gene (SLC40A1) mutations. SLC40A1 encodes a cellular...

Read the complete abstract on PubMed

Topics

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

Share to Transferrin
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cation Transport Proteins

Share to Child, Preschool

Share to Ferritins

Share to Ferroportin

Share to Hemochromatosis

Share to Iron Overload

Source

Open in PubMed Open full text

Identifiers

PMID: 20691492
DOI: 10.1016/j.jhep.2010.05.016
PMCID: PMC2956830

Genes

HFE

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

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.PMID 20691492Read ↗

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)Semantic proximity Read ↗

Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation.Semantic proximity Read ↗

Ferroportin disease: pathogenesis, diagnosis and treatment.Semantic proximity Read ↗

Genetic and clinical heterogeneity of ferroportin disease.Semantic proximity Read ↗

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional FeaturesSemantic proximity Read ↗

Characterization of ferroportin disease and SLC40A1-related hemochromatosis - Results from the EASL non-HFE registry.Semantic proximity Read ↗

Diagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders.Semantic proximity Read ↗

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patientsSemantic proximity Read ↗

Comparing the types of haemochromatosis- from genetics to clinics.Semantic proximity Read ↗

Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.Semantic proximity Read ↗

Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.Semantic proximity Read ↗

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.Semantic proximity Read ↗

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