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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J Intern Med,pp. Rev Col Gastroenterol [online].

Si continua navegando, consideramos que acepta hemocromarosis uso. SRJ is a prestige metric based on the idea that not all citations are the same.

Hemocromatosis hereditaria –

Hospital Universitario hereditariz Canarias. Patients are advised to avoid alcohol consumption and to avoid iron supplements.

Services on Demand Article. J Hepatol, 29pp. Gastroenterology,pp.

A total of Are you a health professional able to prescribe or dispense drugs? Nat Genet, 25pp. Se continuar a navegar, consideramos que aceita o seu uso.

Am J Gastroenterol, 92pp. 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.

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HFE mutation analysis in Greeks reveals genetic heterogeneity. Blood Cells Mol Dis, 25pp. The development of new diagnostic techniques, such as genetic studies for HFE mutation, has improved early detection that permits prompt therapy, preventing morbidity and mortality in healthy carriers.

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Diagnosis of hemochromatosis probands in a community hospital. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis.

CiteScore measures average citations received per document published. 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.

Hepatology, 28pp. This mutation is produced by aq substitution of tyrosine for cysteine at position of the HFE gene CY. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Gut, 41pp. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

Scand J Gastroenterol, 36pp. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Nat Genet, 13pp. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. Nat Genet, 14pp. The objective of this study 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.

Prevalence of the CY mutation for haemochromatosis on the Island of Majorca. Gastroenterology, 92pp.

Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. How to cite this article. Previous article Next article.

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Clinical characteristics of hereditary hemochromatosis patients who lack the CY mutation.

Hemocromatosis hereditaria

Santa Coloma de Gramenet. 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.

Frequency analysis and allele map in favor of the celtic origin of the CY mutation of hemochromatosis. Rev Col Gastroenterol [online]. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. J Clin Invest,pp.

Hemocromatosis hereditaria – Bibliografía

Transferrin receptor-2 gene and non-CY homozygous patients with hemochromatosis. January Pages Continuing navigation will be considered as acceptance of this use.

The HFE, is located on chromosome 6, and may have three types of mutations of this gene, however the most common mutation is CY. A population based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.

HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. Clin Genet, 61pp.