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Volumn 84, Issue 6, 2005, Pages 347-352

Recent advances in hereditary hemochromatosis

Author keywords

Genetics; Hemochromatosis; HFE gene; Iron overload

Indexed keywords

DEFEROXAMINE; ERYTHROPOIETIN; FERRITIN; TRANSFERRIN;

EID: 20444459918     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-005-1006-8     Document Type: Review
Times cited : (44)

References (51)
  • 3
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G→A (C282Y) HFE hereditary hemochromatosis mutation in the USA
    • 10.1016/S0140-6736(02)07447-0
    • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T (2002) Penetrance of 845G→A (C282Y) HFE hereditary hemochromatosis mutation in the USA. Lancet 359:211-218 10.1016/S0140-6736(02)07447-0
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3    Ho, N.J.4    Gelbart, T.5
  • 4
    • 0037164344 scopus 로고    scopus 로고
    • Genetics of haemochromatosis
    • Bomford A (2002) Genetics of haemochromatosis. Lancet 360:1673-1681
    • (2002) Lancet , vol.360 , pp. 1673-1681
    • Bomford, A.1
  • 5
    • 0033066062 scopus 로고    scopus 로고
    • A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria
    • 10.1016/S0168-8278(99)80188-3
    • Brissot P, Moirand R, Jouanolle AM, Guyader D, Le Gall JY, Deugnier Y, David V (1999) A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria. J Hepatol 30:588-593 10.1016/S0168-8278(99)80188-3
    • (1999) J. Hepatol. , vol.30 , pp. 588-593
    • Brissot, P.1    Moirand, R.2    Jouanolle, A.M.3    Guyader, D.4    Le Gall, J.Y.5    Deugnier, Y.6    David, V.7
  • 8
  • 10
    • 0036181423 scopus 로고    scopus 로고
    • Novel genes, proteins, and inherited disorders of iron overload: Iron metabolism is less boring than thought
    • Cazzola M (2002) Novel genes, proteins, and inherited disorders of iron overload: Iron metabolism is less boring than thought. Haematologica 87:115-116
    • (2002) Haematologica , vol.87 , pp. 115-116
    • Cazzola, M.1
  • 11
    • 0036430202 scopus 로고    scopus 로고
    • Hereditary hyperferritinaemia/cataract syndrome
    • Cazzola M (2002) Hereditary hyperferritinaemia/cataract syndrome. Best Pract Res Clin Haematol 15:385-398
    • (2002) Best Pract. Res. Clin. Haematol. , vol.15 , pp. 385-398
    • Cazzola, M.1
  • 12
    • 0037700765 scopus 로고    scopus 로고
    • Genetic disorders of iron overload and the novel "ferroportin disease"
    • Cazzola M (2003) Genetic disorders of iron overload and the novel "ferroportin disease." Haematologica 88:721-724
    • (2003) Haematologica , vol.88 , pp. 721-724
    • Cazzola, M.1
  • 14
    • 0037100382 scopus 로고    scopus 로고
    • Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
    • 10.1182/blood-2001-11-0132
    • Devalia V, Carter K, Walker AP, Perkins SJ, Worwood M, May A, Dooley JS (2002) Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 100:695-697 10.1182/blood-2001-11-0132
    • (2002) Blood , vol.100 , pp. 695-697
    • Devalia, V.1    Carter, K.2    Walker, A.P.3    Perkins, S.J.4    Worwood, M.5    May, A.6    Dooley, J.S.7
  • 17
    • 4544237005 scopus 로고    scopus 로고
    • Iron-chelation therapy: An update
    • Franchini M, Veneri D (2004) Iron-chelation therapy: An update. Hematol J 5:287-292
    • (2004) Hematol. J. , vol.5 , pp. 287-292
    • Franchini, M.1    Veneri, D.2
  • 18
    • 0034192162 scopus 로고    scopus 로고
    • Safety and efficacy of subcutaneous bolus injection of deferoxamine in adult patients with iron overload
    • Franchini M, Gandini G, de Gironcoli M, Vassanelli A, Borgna-Pignatti C, Aprili G (2000) Safety and efficacy of subcutaneous bolus injection of deferoxamine in adult patients with iron overload. Blood 95:2776-2779
    • (2000) Blood , vol.95 , pp. 2776-2779
    • Franchini, M.1    Gandini, G.2    de Gironcoli, M.3    Vassanelli, A.4    Borgna-Pignatti, C.5    Aprili, G.6
  • 20
    • 0035425811 scopus 로고    scopus 로고
    • HFE gene and hemochromatosis: A HuGE review
    • 10.1093/aje/154.3.193
    • Hanson EH, Imperatore G, Burke W (2001) HFE gene and hemochromatosis: A HuGE review. Am J Epidemiol 154:193-206 10.1093/aje/154.3.193
    • (2001) Am. J. Epidemiol. , vol.154 , pp. 193-206
    • Hanson, E.H.1    Imperatore, G.2    Burke, W.3
  • 21
    • 20444500881 scopus 로고    scopus 로고
    • Hemochromatosis
    • Online Mendelian Inheritance in Man, OMIM. Baltimore: McKusick-Nathans Institute for Genetic Medicine
    • Hemochromatosis. In: Online Mendelian Inheritance in Man, OMIM. Baltimore: McKusick-Nathans Institute for Genetic Medicine, 2000 (http://www.ncbi.nlm.nih.gov/omim/)
    • (2000)
  • 22
  • 23
    • 0031755098 scopus 로고    scopus 로고
    • Hereditary juvenile haemochromatosis: A genetically heterogeneous life-threatening iron storage disease
    • Kelly AL, Rhodes DA, Roland JM, Schofield P, Cox TM (1998) Hereditary juvenile haemochromatosis: A genetically heterogeneous life-threatening iron storage disease. QJM 91:607-618
    • (1998) QJM , vol.91 , pp. 607-618
    • Kelly, A.L.1    Rhodes, D.A.2    Roland, J.M.3    Schofield, P.4    Cox, T.M.5
  • 28
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
    • 1:CAS:528:DyaK1MXisVGktrk%3D
    • Mura C, Raguenes O, Férec C (1999) HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis. Blood 93:2502-2505 1:CAS:528:DyaK1MXisVGktrk%3D
    • (1999) Blood , vol.93 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Férec, C.3
  • 35
    • 0031836405 scopus 로고    scopus 로고
    • Molecular genetics and control of iron metabolism in hemochromatosis
    • Pietrangelo A, Camaschella C (1998) Molecular genetics and control of iron metabolism in hemochromatosis. Haematologica 83:456-461
    • (1998) Haematologica , vol.83 , pp. 456-461
    • Pietrangelo, A.1    Camaschella, C.2
  • 36
    • 0037406739 scopus 로고    scopus 로고
    • Haemochromatosis
    • Pietrangelo A (2003) Haemochromatosis. Gut 52:23-30
    • (2003) Gut , vol.52 , pp. 23-30
    • Pietrangelo, A.1
  • 37
    • 1442306702 scopus 로고    scopus 로고
    • Non-HFE hemochromatosis
    • Pietrangelo A (2004) Non-HFE hemochromatosis. Hepatology 39:21-29
    • (2004) Hepatology , vol.39 , pp. 21-29
    • Pietrangelo, A.1
  • 38
    • 2542560427 scopus 로고    scopus 로고
    • Hereditary hemochromatosis - A new look at an old disease
    • 10.1056/NEJMra031573
    • Pietrangelo A (2004) Hereditary hemochromatosis - a new look at an old disease. N Engl J Med 350:2383-2397 10.1056/NEJMra031573
    • (2004) N. Engl. J. Med. , vol.350 , pp. 2383-2397
    • Pietrangelo, A.1
  • 40
    • 0031836302 scopus 로고    scopus 로고
    • Classification and diagnosis of iron overload
    • Piperno A (1998) Classification and diagnosis of iron overload. Haematologica 83:447-455
    • (1998) Haematologica , vol.83 , pp. 447-455
    • Piperno, A.1
  • 48
    • 20244388240 scopus 로고    scopus 로고
    • Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
    • 10.1038/ng1053
    • Roetto A, Papanikolaou G, Politou M (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 33:21-22 10.1038/ng1053
    • (2003) Nat. Genet. , vol.33 , pp. 21-22
    • Roetto, A.1    Papanikolaou, G.2    Politou, M.3
  • 50
    • 0017698209 scopus 로고
    • Idiopathic hemochromatosis: Demonstration of recessive transmission and early detection by family HLA typing
    • Simon M, Bourel M, Genetet B, Fauchet R (1977) Idiopathic hemochromatosis: Demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med 297:1017-1021
    • (1977) N. Engl. J. Med. , vol.297 , pp. 1017-1021
    • Simon, M.1    Bourel, M.2    Genetet, B.3    Fauchet, R.4
  • 51


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.