Posted on June 2, 2019


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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How to cite this article. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

Noninvasive prediction of fibrosis in CY homozygous hemochromatosis. Servicio de Aparato Yereditaria. Nat Genet, 13pp. Am J Med,pp. Previous article Next article. Blood, 97pp.

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Am J Phys Anthropol,pp. End-stage liver disease without hemochromatosis associated with elevated hepatic iron index. Print Hemocromtaosis to a friend Export reference Mendeley Statistics. J Hepatol, 33pp. The diseas has traditionally been described in groups of celtic origin of northern Europe for more than years.


Am J Hum Genet, 60pp. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Services on Demand Article.

Spanish pdf Article in xml format Article references How to cite this article Automatic translation Send this article by e-mail.

Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Hum Immunol, 62pp. N Engl J Med,pp.

Hemocromatosis hereditaria – Bibliografía

Treatment consists on mobilizing iron deposits from the body by serial phlebotomies. Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis.

Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries hemkcromatosis the Mediterranean Basin.

Conclusion The genotypic and phenotypic expression of HH in Spain is very similar to that reported in Northern Europe. Mutaciones CY y H63D del gen de la hemocromatosis en pacientes con sobrecarga ferrica. Hereditary hemochromatosis is a disorder related to iron metabolism. The UK Hemochromatosis Consortium.

Blood,pp. Mutation analysis of the transferring receptor-2 gene in patients with iron overload. This item has received. Full text is only aviable in PDF. Blood Cells Mol Dis, 22pp. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis.


Blood Cells Mol Dis, 72pp. Introduction The prevalence of CY homozygosity in patients with hereditary hemochromatosis HH has been reported to be markedly lower in the Mediterranean Basin than in northern Europe.

Hemocromatosis hereditaria

A total of Blood Cells Mol Dis, 27pp. Patients and Method The criteria for Hereditarua diagnosis were: J Intern Med,pp. 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.

Clinical features of genetic hemochromatosis in women compared with men. Early institution of therapy results in very good prognosis, reducing the risk of cirrhosis, hepatic decompensation and hepatocellular carcinoma.