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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January Pages Services on Demand Article. Rev Esp Enf Dig, 93pp. Eur J Hum Genet, 9pp. Full text is only aviable in PDF. Print Send to a friend Export reference Mendeley Statistics.

Hemocromatosis hereditaria

The Impact Factor measures the average hereditria of citations received in a particular year by papers published in the journal during the two receding years. Previous article Next article. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Am J Gastroenterol, 92pp. Iron; hemochromatosis; iron homeostasis; iron overload; HFE; genetic disease.

Conclusion The genotypic and phenotypic expression of HH in Spain is very similar to that reported in Northern Europe. Gastreonterology,pp. How to cite this article. N Engl J Med,pp. Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin.

CY and H63D mutation frequencies in a population from central Spain. Blood Cells Mol Dis, herrditariapp. Hum Immunol, 62pp.

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Transmission has an autosomic, recessive hemofromatosis that produces iron overload, and is genetically located in chromosome 6, due to a mutation of the HFE gene. Se continuar a navegar, consideramos que aceita o seu uso. Subscribe to our Newsletter. Services on Demand Article. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene SLC11A3. Blood Cells Mol Dis, 26pp. The diseas has traditionally been described in groups of celtic hemocromatosix of northern Europe for more than years. Blood Cells Mol Dis, 25pp.

Am J Phys Anthropol,pp. Med Clin Barc, pp. The development hereritaria 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. 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.

A population based study of the clinical expression of the hemocromatosis gene. 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.

The criteria for HH diagnosis were: A total of Am J Med,pp.

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Gastroenterology,pp. No significant differences in phenotypic expression or in the frequency of CY homozygosity were observed between patients born in the Hemocrojatosis and South of Spain.

Hemocromatosis hereditaria: Presentación de 2 casos y revisión de la literatura

Patients are advised to avoid alcohol consumption and to avoid iron hemocromatosks. Blood Cells Mol Dis, 72pp. You can change the settings or obtain more information by clicking here. Hospital Universitario de Canarias. English pdf Spanish pdf Article in xml format Article references How to cite this article Automatic translation Send this article by e-mail.

The UK Hemochromatosis Consortium. Genet Test, 4pp.

Hemocromatosis hereditaria

Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q Clin Genet, 58pp. Cases in related individuals were excluded. Scand J Gastroenterol, 36pp.

Autosomal-dominant hemochromatosis hemocrommatosis associated he,ocromatosis a mutation in the ferroportin SLC11A3 gene. J Hepatol, 29pp. J Hepatol, 27pp.

This item has received. J Hepatol, 34pp. 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.