HEMOCROMATOSIS HEREDITARIA PDF
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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A population based study of the clinical expression of the hemocromatosis gene. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Ann Intern Med,pp. J Intern Med,pp.
Clin Genet, 58pp. SRJ is a prestige metric based on the idea that not all citations are the same. Two novel nonsense mutations of HFE gene in five unrelated hemocromxtosis patients with hemochromatosis. Full text is only aviable in PDF. 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.
The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding hfreditaria. Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. CiteScore measures average citations received per document published.
Rev Col Gastroenterol [online]. J Hepatol, 29pp.
How to cite this article. Rev Esp Enf Dig, 93pp. The objective of this heredjtaria is to determine the prevalence of the 2 main HFE gene mutations in a large series of unrelated Spanish patients with HH from different geographical origins. Hospital Universitario de Canarias. Mutation analysis of the transferring receptor-2 gene in patients with iron overload.
Hereditary hemochromatosis is a disorder related to iron metabolism. J Hepatol, 33pp. Genotype and phenotypic expression of hereditary hemochromatosis in spain.
Hemochromatosis includes a variety of chronic syndromes of genetic origin with iron overload, which can be classified according to genetic mutations in four groups, from type 1 to type 4. 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.
The HFE mutation results in an increased intestinal iron absorption that accumulates in several organs and tissues heart, liver, joints, pituitary, and pancreas leadinto disfunction and damage such a cardiomyopathy, cirrhosis, arthritis, hypogonadism, and diabetes.
Hemocromatosis hereditaria
J Hepatol, 27pp. Results A total heeditaria Blood Cells Mol Dis, 26pp. J Clin Invest,pp. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q Scand J Gastroenterol, 36pp. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Hereditary hemochromatosis is a recessive disorder in which a dominant mutation of the hemochromatosis gene HFE generates an hemofromatosis absorption and severe iron overload.
Blood Cells Mol Dis, 25pp. The American study showed that a multi-ethnic population of every white people is homozygous for the CY HFE gene mutation, implicated in hemochromatosis type 1. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Se excluyeron los casos detectados en hereditariz.
Med Clin Barc, pp. Se continuar a navegar, consideramos que aceita o seu uso. herefitaria
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No significant differences in phenotypic heerditaria or in the frequency of CY homozygosity were observed between patients born in the North and South of Spain. Blood Cells Mol Dis, 22pp. Rev Hemoxromatosis Gastroenterol [online]. Spanish pdf Article in xml format Article references How to cite this article Automatic translation Send this article by e-mail.
Services on Demand Article. Transmission has an autosomic, recessive pattern that produces iron overload, and is genetically located in chromosome 6, due to a mutation of the HFE gene.
Clinical characteristics of hereditary hemochromatosis patients who lack the CY mutation.
Gastroenterology,pp. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Hemocromstosis, 13pp. Eur J Hum Genet, 9pp. A population based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Am J Med,pp. Frequency analysis and allele map in favor of the celtic origin of the CY mutation of hemochromatosis.