2014, Número 5
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Ann Hepatol 2014; 13 (5)
Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors
Pelusi S, Rametta R, Della CC, Congia R, Dongiovanni P, Pulixi EA, Fargion S, Fracanzani AL, Nobili V, Valenti L
Idioma: Ingles.
Referencias bibliográficas: 7
Paginas: 568-571
Archivo PDF: 200.69 Kb.
RESUMEN
Sin resumen.
REFERENCIAS (EN ESTE ARTÍCULO)
Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dubè MP, Andres L, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004; 36: 77-82.
Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003; 33: 21-2.
Pietrangelo A. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology 2010; 139: 393- 408, e1-2.
Camaschella C. Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders. Blood 2005; 106: 3710-7.
Gehrke SG, Pietrangelo A, Kascak M, Braner A, Eisold M, Kulaksiz H, Herrmann T, et al. HJV gene mutations in European patients with juvenile hemochromatosis. Clin Genet 2005; 67: 425-8.
Lanzara C, Roetto A, Daraio F, Rivard S, Ficarella R, Simard H, Cox TM, et al. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood 2004; 103: 4317-21.
Piperno A, Mariani R, Arosio C, Vergani A, Bosio S, Fargion S, Sampietro M, et al. Haemochromatosis in patients with beta-thalassaemia trait. Br J Haematol 2 0 0 01111: 908-14.