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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Dis Markers, 17pp.
Clin Genet, 58pp. Blood Cells Mol Dis, 26pp. 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.
Hereditary hemochromatosis is a disorder related to iron metabolism. Mutation analysis in hereditary hemochromatosis. Long-term survival in patients with hereditary hemochromatosis. Are you a health professional able to prescribe or dispense drugs?
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Gut, 41pp. CY and H63D mutation frequencies in a population from central Spain.
This item has received. SRJ is a prestige metric based on the idea that not all citations are the same. Med Clin Barc, pp. Gastreonterology,pp. Rev Col Gastroenterol [online]. A population based study of the clinical expression of the hemocromatosis gene. It is common in European populations, but it is frequently misdiagnosed with other diseases such as alcoholic liver disease and several hemocromatosks.
Se excluyeron los casos detectados en familiares. Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene SLC11A3. Conclusion The hemocroomatosis and phenotypic expression of HH in Spain is very similar to that reported in Northern Europe. Human Y-chromosome variation in the western Mediterranean area: Transferrin receptor-2 gene and non-CY homozygous patients with hemochromatosis.
Mutaciones CY y H63D del gen de la hemocromatosis en pacientes con sobrecarga ferrica.
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J Hepatol, 33pp. Clinical characteristics of hereditary hemochromatosis patients who lack the CY mutation. Results A total of Si continua navegando, consideramos que acepta su uso. 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 – Síntomas y causas – Mayo Clinic
Hemcromatosis,pp. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Treatment consists on mobilizing iron deposits from the body by serial phlebotomies. How to cite this article. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.
SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.
Prevalencia de la mutacion CysTyr del gen de la hemocromatosis en pacientes diagnosticados de hemocromatosis hereditaria de Cantabria. Hereditary hemochromatosis is a recessive disorder in which a dominant mutation of the hemochromatosis gene HFE generates an increased absorption and severe iron overload. Print Send to a friend Export reference Mendeley Statistics. Cases in related individuals were excluded. The HFE, is located on chromosome 6, and may have three types of mutations of this gene, however the most hemocromatsis mutation is CY.
HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. HFE mutations in patients with hereditary haemochromatosis in Sweden. January Pages Hospital Universitario de Canarias.