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2016, Número 6

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Ann Hepatol 2016; 15 (6)


GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis

Levstik A, Stuart A, Adams PC

Idioma: Ingles.
Referencias bibliográficas: 11
Paginas: 907-910
Archivo PDF: 129.11 Kb.


RESUMEN

Sin resumen.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Pietrangelo A. Genetics, Genetic Testing and Management of Hemochromatosis: 15 years since hepcidin. Gastroenterology 2015; 1240-51.

  2. Barton JC, Lafreniere SA, Leiendecker-Foster C, Li H, Acton RT, Press RD, Eckfeldt JH. HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants. Am J Hematol 2009; 710-14.

  3. de TM, Roth MP, Jouanolle AM, Coppin H, le GG, Piperno A, Ferec C, et al. Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis. J Hepatol 2015; 62: 664-72.

  4. McLaren C, Emond M, Subramanian N, Phatak P, Barton JC, Adams PC, Goh JB, et al. Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe Iron overload. Hepatology 2015; 62: 429-39.

  5. Ryan J, Russell J, Ryan J, Crowe J, Stewart S. GNPAT variant is not associated with severe iron ovelroad in Irish C282Y homozygotes. Hepatology 2016: 63; 2055-6.

  6. Besson C, Martinez M. Further support for the association of GNPAT variant rs11558492 with severe iron overload in hemochromatosis. Hepatology 2016: 63; 2054-5.

  7. Bardou-Jacquet E, De Tayrac M, Mosser J, Deugnier Y. GNPAT Variant associated with severe iron overload in HFE hemochromatosis. Hepatology 2015; 62: 1917-8.

  8. Hsiao S, Lee CT, Pei S. GNPAT variant is associated with iron phenotyp in healthy Taiwanese women: A population without the HFE C282Y mutation. Hepatology 2016: 63; 2057-8.

  9. Ravasi G, Pelucchi S, Trombini P, Mariani R, Tomosugi N, Modignani GL, Pozzi M, et al. Hepcidin expression in iron overload diseases is variably modulated by circulating factors. PLoS One 2012; 7: e36425.

  10. Vermeulen E, Vermeersch P. Hepcidin as a biomarker for the diagnosis of iron metabolism disorders: a review. Acta Clin Belg 2012; 67: 190-7.

  11. Handa P, Kowdley KV. Glyceronephosphate O-acyltransferase as a hemochromatosis modifier gene: Another iron in the fire? Hepatology 2015; 62: 337-9.




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