Hemocromatosis hereditaria. Powell L.W., Isselbacher omatosis Pardo A., Salido E., Quintero omatosis hereditaria: implicaciones. Abstract. TAPIAS M, Mónica and IDROVO C, Victor. Hereditay hemochromatosis. Rev Col Gastroenterol [online]. , vol, n.4, pp ISSN Hemocromatosis hereditaria: Presentación de 2 casos y revisión de la literatura. Rev Col Gastroenterol [online]. , vol, n.2, pp ISSN
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J Hepatol, 29pp. The diseas has traditionally been described in groups of celtic origin of northern Europe for more than years. The criteria for HH diagnosis were: Se continuar a navegar, consideramos que aceita o seu uso. SRJ is a prestige metric based on the idea that not all citations are the same. Spanish pdf Article in xml format Article references How to cite this article Automatic translation Send this article by e-mail.
Nat Genet, 13pp. Clin Genet, 61pp. HFE gene mutations analysis in Basque hereditary haemochromatosis hereditsria and controls. In Spain, the available data are contradictory and limited to small series in specific regions. To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior.
Subscribe to our Newsletter. Clinical features of genetic heereditaria in women compared with men. The genotypic and phenotypic expression of HH in Spain is very similar to that reported in Northern Europe. Patients and Method The criteria for HH diagnosis were: Lancet,pp. Blood Cells Mol Dis, 22pp.
The UK Hemochromatosis Consortium. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Hemkcromatosis objective of this study is to determine the prevalence of the 2 main HFE gene mutations in a large series of unrelated Hemocrokatosis patients with HH from different geographical origins.
Treatment consists on mobilizing iron deposits from the body by serial phlebotomies. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Gastroenterology, 92pp.
Are you a health professional able to prescribe or dispense drugs? Med Clin Barc, pp. This item has received. Noninvasive prediction of fibrosis in CY homozygous hemochromatosis. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin SLC11A3 gene.
Hemocromatosis hereditaria: Presentación de 2 casos y revisión de la literatura
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Continuing navigation will be considered as acceptance of this use.
Nat Genet, 25pp. J Hepatol, 38pp. Cases in related individuals were excluded. The HFE, is located on chromosome 6, and may have three types of mutations of this gene, however the most common mutation is CY.
J Hepatol, 27pp. No significant differences in phenotypic expression or in the frequency of CY homozygosity were observed between patients born in the North and South of Spain.
Hemocromatosis hereditaria –
Am J Phys Anthropol,pp. CY and H63D mutation frequencies in a population from central Spain.
You can change the settings or obtain more information by clicking here. J Herediraria Invest,pp. Scand J Gastroenterol, 36pp. Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin. Am J Hum Genet, 60pp.