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Volumn 79, Issue 936, 2003, Pages 600-601

Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AWARENESS; CASE REPORT; CONGENITAL CATARACT; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; HEMOCHROMATOSIS; HUMAN; HYPERFERRITINEMIA; IRON BLOOD LEVEL; IRON OVERLOAD; LABORATORY TEST; LIVER BIOPSY; MALE; PHLEBOTOMY; PHYSICAL EXAMINATION;

EID: 0345275998     PISSN: 00325473     EISSN: None     Source Type: Journal    
DOI: 10.1136/pmj.79.936.600     Document Type: Article
Times cited : (7)

References (8)
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    • Arnold, J.D.1    Mumford, A.D.2    Lindsay, J.O.3
  • 2
    • 0031965464 scopus 로고    scopus 로고
    • Hereditary hyperferritinaemia-cataract syndrome: Two novel mutations in the L-ferritin iron-responsive element
    • Mumford AD, Vulliamy T, Lindsay J, et al. Hereditary hyperferritinaemia- cataract syndrome: two novel mutations in the L-ferritin iron-responsive element. Blood 1998;91:367-8.
    • (1998) Blood , vol.91 , pp. 367-368
    • Mumford, A.D.1    Vulliamy, T.2    Lindsay, J.3
  • 3
    • 0028881134 scopus 로고
    • Mutation in the iron responsive element of the L ferritin mRNa in a family with dominant hyperferritinaemia and cataract
    • Beaumont C, Leneuve P, Devaux I, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995;11:444-6.
    • (1995) Nat Genet , vol.11 , pp. 444-446
    • Beaumont, C.1    Leneuve, P.2    Devaux, I.3
  • 4
    • 0028788201 scopus 로고
    • Molecular basis for the recently described hereditary hyperferritinaemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
    • Girelli D, Corrocher R, Bisceglia L, et al. Molecular basis for the recently described hereditary hyperferritinaemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation") Blood 1995;86:4050-3.
    • (1995) Blood , vol.86 , pp. 4050-4053
    • Girelli, D.1    Corrocher, R.2    Bisceglia, L.3
  • 5
    • 0034210637 scopus 로고    scopus 로고
    • Translational pathophysiology: A novel molecular mechanism of human disease
    • Cazzola M, Skoda RC. Translational pathophysiology: a novel molecular mechanism of human disease. Blood 2000;95:3280-8.
    • (2000) Blood , vol.95 , pp. 3280-3288
    • Cazzola, M.1    Skoda, R.C.2
  • 6
    • 0033543569 scopus 로고    scopus 로고
    • Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinaemia-cataract syndrome
    • Allerson CR, Cazzola M, Rouault TA. Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinaemia- cataract syndrome. J Biol Chem 1999;274:26439-47.
    • (1999) J Biol Chem , vol.274 , pp. 26439-26447
    • Allerson, C.R.1    Cazzola, M.2    Rouault, T.A.3
  • 7
    • 0035725363 scopus 로고    scopus 로고
    • Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome
    • Girelli D, Bozzini C, Zecchina G, et al. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia- cataract syndrome. Br J Haematol 2001;115:334-40.
    • (2001) Br J Haematol , vol.115 , pp. 334-340
    • Girelli, D.1    Bozzini, C.2    Zecchina, G.3
  • 8
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    • Ferritin crystal cataracts in hereditary hyperferritinaemia cataract syndrome
    • Brooks DG, Manova-Todorova K, Farmer J, et al. Ferritin crystal cataracts in hereditary hyperferritinaemia cataract syndrome. Invest Ophthalmol Vis Sci 2002;43:1121-6.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 1121-1126
    • Brooks, D.G.1    Manova-Todorova, K.2    Farmer, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.