Results 11 to 20 of about 27,519 (222)
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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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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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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Hereditary hemochromatosis [PDF]
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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The Myths and Realities of Hemochromatosis
Canadian Journal of Gastroenterology, 2007 Hemochromatosis is a common genetic condition and yet there are still a number of misperceptions surrounding the diagnosis and management of this condition. Hemochromatosis affects both men and women.
Melanie D Beaton, Paul C Adams
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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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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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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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A preterm neonate with infantile liver failure syndrome 1 due to leucyl-tRNA synthetase 1 gene (<i>LARS1</i>) mutations with a histopathologic phenotype of neonatal hemochromatosis. [PDF]
JPGN RepAbstract We report a case of a premature, growth‐restricted female infant with feeding intolerance and coagulopathy, treated initially for sepsis, who progressed to neonatal acute liver failure and end‐stage hepatic encephalopathy after a prolonged hospitalization with extensive diagnostic evaluation, and was found by autopsy to have histopathologic ...
Bruder A +3 more
europepmc +2 more sources