Inherited iron overload disorders. Iron is an essential nutrient that is highly toxic in excess. Normal iron balance is maintained primarily by regulation of intestinal absorption of the met... Andrews,C Nancy - 《Current Opinion in Pediatrics》 被引量: 35发表: 2000年 Inherited Iron Overload ...
iron overloadhaemochromatosisneonatal haemosiderosisinherited disordersJ. W. HALLIDAYLiver Group, Department of Medicine, University of Queensland, Royal Brisbane Hospital, Brisbane, AustraliaJohn Wiley & Sons, LtdActa PaediatricaHalliday JW. Inherited iron overload. Acta Paediatr Scand [Suppl 361] 1989...
Health-related quality of life in a racially diverse population screened for hemochromatosis: results from the hemochromatosis and Iron overload screening (HEIRS) study. Genet Med. 2007;9:705–12. Article CAS PubMed Google Scholar Cotugno G, Nicolo R, Cappelletti S, Goffredo BM, Dionisi Vici...
Rothenberg BE, Voland JR. (32-Microglobulin knockout mice develop parenchymal iron overload: a putative role of the major histocompatibility complex in iron metabolism. Proc Natl Acad Sci USA 1996;93: 1529–1534. ArticlePubMedCASGoogle Scholar Santos M, Schilman MW, Rademakers LHPM, Marx JJM,...
Visapaa I, FEellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V et al (2002) GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation inBCS1L. Am J Hum Genet 71:863–876 Vreken P, Valianpour F, Nijtmans LG, Grivell LA, Plecko B, Wanders...
(4.5% cumulative risk by age 20, 30% of whom eventually die of this complication) exists in patients with severe generalized RDEB. Although the cause is unproven, data suggest the possibility that this may result from a micronutrient deficiency (carnitine; selenium) or chronic iron overload [...
Few data are already available suggesting, for example, that iron overload in patients with sporadic porphyria cutanea tarda is associated with mutations in the hereditary hemochromatosis gene. However, it is obvious that disorders of iron metabolism have a multifactorial pathogenesis, including ...
However, it can also be pro-oxidant and to avoid its toxicity, iron metabolism is strictly controlled and failure of these control systems could induce iron overload or iron deficient anemia. During the past few years, several new discoveries mostly arising from human patients or mouse models ...
iron overloadmembrane disordersPIEZO1red blood cellSevere iron overload is frequent in dehydrated hereditary stomatocytosis (DHSt) despite well-compensated hemolysis and no or little transfusion requirement. We investigated 4 patients with proven DHSt, in whom the degree of hemolysis was closely ...
Iron and copper overload in the liver are seen in the human diseases hemochromatosis and Wilson’s disease, respectively (=-=Schilsky and Oikonomou, 2005-=-). Both iron and copper overload have been implicated as causal factors in both rodent and human hepatic cancer (Harrison and Bacon, ...