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

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features

9 Sept 2019

Abstract excerpt

Iron overloading disorders linked to mutations in ferroportin have diverse phenotypes in vivo, and the effects of mutations on ferroportin in vitro range from loss of function (LOF) to gain of function (GOF) with hepcidin resistance. We reviewed 359 patients with 60 ferroportin variants. Overall, macrophage iron overload and low/normal transferrin saturation (TSAT) segregated with mutations that caused LOF, while...

Read the complete abstract on PubMed

Topics

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

Share to Hemoglobinopathies and Related Disorders
Share to Iron Metabolism and Disorders
Share to Trace Elements in Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31505869
DOI: 10.3390/ph12030132

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional FeaturesPMID 31505869Read ↗

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 ↗

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

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

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

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

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

Iron disorders of genetic origin: a changing world.Semantic proximity Read ↗

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

Hereditary Hemochromatosis: Genetic Complexity and New Diagnostic ApproachesSemantic proximity Read ↗

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

The dynamics of hepcidin-ferroportin internalization and consequences of a novel ferroportin disease mutation.Semantic proximity Read ↗

Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.Semantic proximity Read ↗

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