Associated Papers
The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.
Kerr SM et al.
Nature Communications, 2026
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency.
Brzozowska N et al.
Nature Genetics, 2025
A simple clinical score to promote and enhance ferroportin disease screening.
Landemaine A et al.
Journal of Hepatology, 2022
Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.
Vlasveld LT et al.
Pharmaceuticals (basel, Switzerland), 2019
Ferroportin disease: pathogenesis, diagnosis and treatment.
Pietrangelo A
Haematologica, 2017
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Wallace DF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.
Détivaud L et al.
Human Mutation, 2013
Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.
McDonald CJ et al.
Journal of Gastroenterology and Hepatology, 2013
Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin.
Nekhai S et al.
Haematologica, 2013
Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination.
Qiao B et al.
Cell Metabolism, 2012
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
Santos PCJL et al.
International Journal of Molecular Sciences, 2012
Mild iron overload in an African American man with SLC40A1 D270V.
Lee PL et al.
Acta Haematologica, 2012
Non-HFE hemochromatosis.
Santos PC et al.
Revista Brasileira De Hematologia E Hemoterapia, 2012
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
Santos PC et al.
Blood Cells, Molecules & Diseases, 2011
Genetic and clinical heterogeneity of ferroportin disease.
Cremonesi L et al.
British Journal of Haematology, 2005