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 Hepatol, 33pp.

Hemocromatosis hereditaria – Bibliografía

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. End-stage liver disease without hemochromatosis associated with elevated hepatic iron index. Hereditary hemochromatosis is a recessive disorder in which a dominant mutation of the hemochromatosis gene HFE generates an increased absorption and severe iron overload. To improve our services and products, we use “cookies” own or third parties herevitaria to show advertising related to client preferences through the analyses of navigation customer behavior.

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Nat Genet, 25pp. N Engl J Med,pp. Hereditwria Test, 4pp. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin SLC11A3 gene.

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Gastroenterology, 92pp. Am J Hum Genet, 60pp. Blood, 97pp.

Rev Col Gastroenterol [online]. J Hepatol, 29pp. Rev Col Gastroenterol [online]. Nat Genet, 14pp. CY and H63D mutation frequencies in a population from central Spain.

Clin Genet, 61pp.

J Hepatol, 27pp. Cases in related individuals were excluded. A population based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Early institution of therapy results in very good prognosis, reducing the risk of cirrhosis, hepatic decompensation and hepatocellular carcinoma. Iron; hemochromatosis; iron homeostasis; iron overload; HFE; genetic disease.

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. You can change the settings or obtain more information by clicking here. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Chelation therapy has limited use in this disorder, and is not recommended.

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Hospital Universitario de Canarias.

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q Eur J Hum Genet, 9pp. 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.

CiteScore measures average citations received per document published. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Hepatology, 28pp. Services on Demand Article. 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.