Results 31 to 40 of about 28,106 (200)
Biochemical, Biophysical, and Cellular Investigations of the Interactions of Transferrin Receptor with Transferrin and the Hereditary Hemochromatosis Protein, HFE [PDF]
, 2004 Hereditary hemochromatosis (HH) is a prevalent genetic disorder that results in the daily excess absorption of dietary iron. If untreated this disease leads to systemic organ failure and death. HH is caused by mutations to the gene coding for a protein
Giannetti, Anthony Michael
core +1 more source
Frontiers in Medicine, 2021 Hereditary hemochromatosis is a genetic iron overload disease related to a mutation within the HFE gene that controls the expression of hepcidin, the master regulator of systemic iron metabolism. The natural stable iron isotope composition in whole blood
Emmanuelle Albalat +5 more
doaj +1 more source
HLA and hemochromatosis disease association in São Miguel Island [PDF]
, 2008 Mestrado em Biologia Molecular e CelularA hemocromatose hereditária uma doença autossómica recessiva do metabolismo do ferro, geralmente associada à mutação C282Y no gene HFE. Presume-se que a origem desta mutação tenha ocorrido por acaso no haplótipo
Gomes, Cidália Maria Teixeira
core
, 2011 With the identification of the HFE gene in 1996, the majority of cases of hereditary hemochromatosis (HH) or type 1 HH were found to be associated with homozygosity for a mutation leading to a cysteine to tyrosine substitution (C282Y) in the HFE protein.
Wallace, Daniel F. +3 more
core +1 more source
HLA determinants in an Australian population of hemochromatosis patients and their families [PDF]
, 1989 The frequencies of different HLA-A and -B alleles in 77 Australian patients with hemochromatosis have been compared with frequencies of HLA alleles not associated with hemochromatosis in 63 of their heterozygous relatives and with published population ...
Tam, K S +3 more
core
, 2009 Review on HFE (hemochromatosis), with data on DNA, on the protein encoded, and where the gene is ...
Dorak, MT, MT Dorak
core +1 more source
A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis
Case Reports in Medicine, 2013 Juvenile hemochromatosis is a rare and severe form of hereditary hemochromatosis. We report the case of a 39-year-old female who presented with heart failure and cirrhosis from previously unrecognized juvenile hemochromatosis.
Cynthia Cherfane +3 more
doaj +1 more source
Egyptian Journal of Medical Human Genetics, 2018 Background: Hereditary hemochromatosis is a disease associated with iron deposition which is caused by the mutations in “hereditary Fe (iron)” (HFE) gene. Case: The 16-year-old male patient was diagnosed with hereditary hemochromatosis after c.1007−47G>A
Vesile Deniz Çelik +4 more
doaj +1 more source
Chronic hepatitis B complicated with secondary hemochromatosis was cured clinically: A case report
Open Medicine, 2023 Chronic hepatitis B (CHB) often causes iron overload in the liver but rarely causes severe secondary hemochromatosis (SH). A 48-year-old man was infected with CHB via vertical transmission. For 21 years, nonstandard treatment with second-line hepatitis B
Ye Yun +4 more
doaj +1 more source