Results 11 to 20 of about 25,688 (240)
JAAPA, 2023 Hemokromatoza je bolest obilježena pretjeranim nakupljanjem željeza u parenhimskim organima s posljedičnim oštećenjem tih organa. Primarna (hereditarna) hemokromatoza je najčešća metabolička genetska bolest u Europi.
Jankov, Katja
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Clinics in Liver Disease, 2000 The recent cloning of the hemochromatosis gene (HFE) and the demonstration that a single missense mutation is responsible for 90% or more of patients with the disease, have stimulated renewed interest in all aspects of this common disease. The molecular tests for identifying mutations in HFE provide improved means for diagnosis, family screening, and ...
Powell, Lawrie W., Yapp, Thomas R.
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Diabetes in HFE Hemochromatosis [PDF]
Journal of Diabetes Research, 2017 Diabetes in whites of European descent with hemochromatosis was first attributed to pancreatic siderosis. Later observations revealed that the pathogenesis of diabetes in HFE hemochromatosis is multifactorial and its clinical manifestations are ...
James C. Barton, Ronald T. Acton
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Revista Brasileira de Hematologia e Hemoterapia, 2012 Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis.
Paulo Caleb Júnior de Lima Santos +5 more
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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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Hemochromatosis and Heart Involvement
Архивъ внутренней медициныHemochromatosis is a life-threatening condition if left untreated, that is caused by excess iron in the body. It can be primary (hereditary) hemochromatosis, resulting from genes mutations, and secondary (acquired) as a result of excessive intake of iron
E. V. Reznik +3 more
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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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Autopsy and Case Reports, 2015 Hereditary hemochromatosis (HH) is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not infrequently accompanied by functional impairment.
Stephen A. Geller +1 more
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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
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Gastroenterology Clinics of North America, 2003 Neonatal hemochromatosis is a rare gestational condition in which iron accumulates in the fetal tissues in a distribution like that seen in hereditary hemochromatosis. Extensive liver damage is the dominant clinical feature, with late fetal loss or early neonatal death. NH recurs within sibships at a rate higher than that predicted for simple Mendelian
Knisely, A S +2 more
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