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dc.contributor.author Szalay, Ferenc
dc.date.accessioned 2014-12-01T17:11:20Z
dc.date.available 2014-12-01T17:11:20Z
dc.date.issued 2013
dc.identifier 84880407518
dc.identifier.citation pagination=1156-1164; journalVolume=154; journalIssueNumber=29; journalTitle=ORVOSI HETILAP;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/436
dc.identifier.uri doi:10.1556/OH.2013.29668
dc.description.abstract Iron-overload diseases are typically insidious, causing progressive and irreversible organ injury before clinical symptoms develop. Some iron-overload diseases as HFE-associated hemochromatosis and beta-thalassemia are quite common, whereas others are very rare. Early diagnosis is important since iron toxicity can be attenuated or prevented. Significant progress of our knowledge on iron metabolism developed in the past years. We learned a lot about HFE gene mutations, function of ferroportin and hepcidin, the hypoferremia hormone produced by the liver. However, many questions are still open. Special forms of localized iron overload are the Hallervorden-Spatz syndrome and pantothenate kinase gene mutation associated neurodegeneration causing progressive extrapyramidal movement disorders. Neonatal hemochromatosis is a severe systemic iron-overload disorder due to gestational alloimmune liver disease caused by transplacental maternal IgG directed against the fetal liver. This review article gives an overview on iron metabolism and iron-overload disease. Pathomechanism, diagnosis and treatment of hereditary hemochromatosis are discussed. Orv. Hetil., 2013, 154, 1156-1164.
dc.relation.ispartof urn:issn:0030-6002
dc.title Haemochromatosis - mint a vastúlterheléssel járó betegségek egyik formája [Hemochromatosis: One form of iron-overload diseases].
dc.type Journal Article
dc.date.updated 2014-11-06T19:38:20Z
dc.language.rfc3066 hu
dc.identifier.mtmt 2365075
dc.identifier.pubmed 23853349
dc.contributor.department I. Sz. Belgyógyászati Klinika
dc.contributor.institution Semmelweis Egyetem


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