Associated Papers
A novel hepcidin mutation.
Praeger-Jahnsen L et al.
Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2023
Hepcidin Signaling in Health and Disease: Ironing Out the Details.
Kowdley KV et al.
Hepatology Communications, 2021
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.
Kowdley DS et al.
The Application of Clinical Genetics, 2021
Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management.
Wu HX et al.
Molecular Genetics & Genomic Medicine, 2020
HAMP Gene Mutation Associated with Juvenile Hemochromatosis in Brazilian Patients.
Fonseca PF et al.
Acta Haematologica, 2016
Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.
Hattori A et al.
Blood Cells, Molecules & Diseases, 2012
Factors influencing disease phenotype and penetrance in HFE haemochromatosis.
Rochette J et al.
Human Genetics, 2010
Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH).
Fabio G et al.
Blood, 2007
The molecular genetics of haemochromatosis.
Le Gac G et al.
European Journal of Human Genetics : Ejhg, 2005
[Molecular basis in hereditary haemochromatosis].
Cadet E et al.
La Revue De Medecine Interne, 2005
HFE gene mutations in susceptibility to childhood leukemia: HuGE review.
Dorak MT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
Hereditary haemochromatosis.
Limdi JK et al.
Qjm : Monthly Journal of the Association of Physicians, 2004
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.
Delatycki MB et al.
Clinical Genetics, 2004
Of mice and men: genetic determinants of iron status.
McGregor J et al.
The Proceedings of the Nutrition Society, 2004
[Iron as comorbid factor in chronic hepatitis C].
Erhardt A et al.
Medizinische Klinik (munich, Germany : 1983), 2003
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
Biasiotto G et al.
Clinical Chemistry, 2003
Genetic disorders of iron overload and the novel "ferroportin disease".
Cazzola M
Haematologica, 2003
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
Roetto A et al.
Nature Genetics, 2003
Hematologically important mutations: iron storage diseases.
Beutler L et al.
Blood Cells, Molecules & Diseases, 0