Results 11 to 20 of about 113,339 (205)
Hereditary hemochromatosis [PDF]
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006 ▪ Abstract In recent years, the number of proteins implicated in iron homeostasis has increased dramatically, and genetic causes have apparently been identified for the major disorders associated with tissue iron overload. These dramatic steps forward have transformed the way we look at iron-related disorders, particularly hemochromatosis.
PIETRANGELO, Antonello
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HFE-Associated Hereditary Haemochromatosis [PDF]
Canadian Journal of Gastroenterology, 2000 Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10.
Emmeke J Eijkelkamp +2 more
doaj +3 more sources
Prognostic Factors and Survival in Patients with Hereditary Hemochromatosis and Cirrhosis [PDF]
Canadian Journal of Gastroenterology, 2006 OBJECTIVES: The survival of treated, noncirrhotic patients with hereditary hemochromatosis is similar to that of the general population. Less is known about the outcome of cirrhotic hereditary hemochromatosis patients.
Melanie D Beaton, Paul C Adams
doaj +2 more sources
Hemochromatosis: Hereditary hemochromatosis and HFE gene
, 2019 Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by an excessively increased absorption of dietary iron. Excess iron can be accumulated because of the lack of an effective excretory mechanism leading to toxic effects. HH is one of the most common genetic disorders in individuals of European descent.
Katsarou, M.-S. +3 more
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Visão atual da hemocromatose hereditária Current approach to hereditary hemochromatosis
Revista Brasileira de Hematologia e Hemoterapia, 2010 A hemocromatose hereditária (HH) está relacionada a diversos distúrbios do metabolismo do ferro que ocasionam sua sobrecarga tecidual. A HH clássica está associada às mutações do gene HFE (homozigose para C282Y ou duplo heterozigose para C282Y/H63D ...
Rodolfo Delfini Cançado +1 more
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Hereditary hemochromatosis: pathogenesis, symptoms, diagnosis and current treatment - literature review [PDF]
Journal of Education, Health and SportIntroduction: Hereditary hemochromatosis is the most common genetic disorder in Northern Europe. It involves an overload of iron in the tissues due to a deficiency of the protein hepcidin.
Dominika Prystacka-Szar +9 more
doaj +2 more sources
Hereditary hemochromatosis: An opportunity for gene therapy [PDF]
Biological Research, 2006 Levels of body iron should be tightly controlled to prevent the formation of oxygen radicals, lipoperoxidation, genotoxicity, and the production of cytotoxic cytokines, which result in damage to a number of organs.
FERNANDO EZQUER +4 more
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Estudi de les mutacions dels exons 2 i 4 del gen HFE en pacients amb porfiria cutània tarda esporàdica [PDF]
, 2006 [cat] La Porfíria Cutània Tarda (PCT) és una malaltia metabòlica que afecta a la pell i al fetge i que és desencadenada per la interacció de múltiples factors que inclouen l´herència, l´alcohol, el VHC, els estrògens i alguns agents tòxics, entre d ...
Toll Abelló, Agustí
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Hepatology, EarlyView., 2022 Abstract Background and Aims Reliable noninvasive biomarkers are an unmet clinical need for the diagnosis of NASH. This study investigates the diagnostic accuracy of the circulating triggering receptor expressed on myeloid cells 2 (plasma TREM2) as a biomarker for NASH in patients with NAFLD and elevated liver stiffness.
Vineesh Indira Chandran +17 more
wiley +1 more source
Liver Transplantation, EarlyView., 2022 Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala +6 more
wiley +1 more source