Sporadic porphyria cutanea tarda due to haemochromatosis [PDF]
Haemochromatosis is a hereditary iron-overload syndrome caused by increased intestinal iron absorption and characterised by accumulation of potentially toxic iron in the tissues.
Dees, A., Geus, H.R.H. (Hilde) de
core
Examining the Clinical Use of Hemochromatosis Genetic Testing
BACKGROUND: Hereditary hemochromatosis leads to an increased lifetime risk for end-organ damage due to excess iron deposition. Guidelines recommend that genetic testing be performed in patients with clinical suspicion of iron overload accompanied by ...
Matthew B Lanktree+5 more
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Tumor necrosis factor α promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis [PDF]
Silvia Fargion+8 more
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Hereditary Hemochromatosis: Genetics, Pathogenesis, and Clinical Management
Recent findings have led to major advances in our understanding of genetics and pathophysiology of hereditary hemochromatosis. Many crucial genes and molecules have come to light, and the complex interrelationships between them are being studied. However,
Jacob Alexander, Kris V. Kowdley
doaj
Complete Scanning of the Hereditary Hemochromatosis Gene (HFE) by Use of Denaturing HPLC [PDF]
Gérald Le Gac+2 more
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Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis [PDF]
Hiroshi Kawabata+9 more
openalex +1 more source
An autopsy case of hemochromatosis and hepatoma combined with hereditary spherocytosis.
Tadayoshi Takegoshi+4 more
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Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent [PDF]
Gérald Le Gac+5 more
openalex +1 more source
Background: Iron overload is frequent in patients with chronic liver disease, associated with shorter survival after liver transplantation in patients with hereditary hemochromatosis.
Sergio Rodriguez-Rodriguez+5 more
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The hereditary hemochromatosis protein, HFE, lowers intracellular iron levels independently of transferrin receptor 1 in TRVb cells [PDF]
Hanqian L. Carlson+3 more
openalex +1 more source