메뉴 건너뛰기




Volumn 28, Issue 1, 1998, Pages 14-18

Hemochromatosis after the gene discovery: Revisiting the diagnostic strategy

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CYSTEINE; FERRITIN; HISTIDINE; IRON; TRANSFERRIN; TYROSINE;

EID: 0031982042     PISSN: 01695185     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (33)

References (41)
  • 1
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3    Tsuchihashi, Z.4    Ruddy, D.A.5    Basava, A.6
  • 3
    • 4243338039 scopus 로고    scopus 로고
    • A genotypic study of 207 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria
    • Brissot P, Moirand R, Jouanolle AM, Guyader D, Le Gall JY, Deugnier Y, et al. A genotypic study of 207 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria. Hepatology 1997; 26: 370A.
    • (1997) Hepatology , vol.26
    • Brissot, P.1    Moirand, R.2    Jouanolle, A.M.3    Guyader, D.4    Le Gall, J.Y.5    Deugnier, Y.6
  • 6
    • 11544305625 scopus 로고    scopus 로고
    • Genotypic/phenotypic correlations in hereditary hemochromatosis: Evolution of diagnostic criteria
    • Adams PC, Chakrabarti S. Genotypic/phenotypic correlations in hereditary hemochromatosis: evolution of diagnostic criteria. Hepatology 1997; 26: 199A.
    • (1997) Hepatology , vol.26
    • Adams, P.C.1    Chakrabarti, S.2
  • 7
    • 0031047769 scopus 로고    scopus 로고
    • Mutations in the MCH class I-like candidate gene for hemochromatosis in French patients
    • Borot N, Roth MP, Malfroy L, Demangel C, Vinel JP, Pascal JP, et al. Mutations in the MCH class I-like candidate gene for hemochromatosis in French patients. Immunogenetics 1997; 45: 320-4.
    • (1997) Immunogenetics , vol.45 , pp. 320-324
    • Borot, N.1    Roth, M.P.2    Malfroy, L.3    Demangel, C.4    Vinel, J.P.5    Pascal, J.P.6
  • 9
    • 0030814039 scopus 로고    scopus 로고
    • Genetic and clinical description of hemochromatosis probands and hétérozygotes: Evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis
    • Barton JC, Shih WWH, Sawada-Hirai R, Acton RT, Harmon L, Rivers C, et al. Genetic and clinical description of hemochromatosis probands and hétérozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Blood Cells Mol Dis 1997; 23: 135-45.
    • (1997) Blood Cells Mol Dis , vol.23 , pp. 135-145
    • Barton, J.C.1    Shih, W.W.H.2    Sawada-Hirai, R.3    Acton, R.T.4    Harmon, L.5    Rivers, C.6
  • 12
  • 13
    • 0031030733 scopus 로고    scopus 로고
    • The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis
    • Adams PC, Deugnier, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 1997; 25: 162-6.
    • (1997) Hepatology , vol.25 , pp. 162-166
    • Adams, P.C.1    Deugnier2    Moirand, R.3    Brissot, P.4
  • 15
    • 0027319493 scopus 로고
    • Screening for hemochromatosis
    • Edwards CQ, Kushner JP. Screening for hemochromatosis. N Engl J Med 1993; 328: 1616-20.
    • (1993) N Engl J Med , vol.328 , pp. 1616-1620
    • Edwards, C.Q.1    Kushner, J.P.2
  • 16
    • 0024445242 scopus 로고
    • Twentyfour hour variation of transferrin saturation in treated and untreated haemochromatosis homozygotes
    • Edwards CQ, Griffen LM, Kaplan J, Kushner JP. Twentyfour hour variation of transferrin saturation in treated and untreated haemochromatosis homozygotes. J Intern Med 1989; 226: 373
    • (1989) J Intern Med , vol.226 , pp. 373-379
    • Edwards, C.Q.1    Griffen, L.M.2    Kaplan, J.3    Kushner, J.P.4
  • 17
    • 0029827481 scopus 로고    scopus 로고
    • Clinical and biochemical abnormalities in people heterozygous for hemochromatosis
    • Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 1996; 335: 1799805.
    • (1996) N Engl J Med , vol.335 , pp. 1799805
    • Bulaj, Z.J.1    Griffen, L.M.2    Jorde, L.B.3    Edwards, C.Q.4    Kushner, J.P.5
  • 20
    • 0020740951 scopus 로고
    • The role of ascorbic acid in the turnover of storage iron
    • Roeser HP. The role of ascorbic acid in the turnover of storage iron. Semin Hematol 1983; 20: 91-100.
    • (1983) Semin Hematol , vol.20 , pp. 91-100
    • Roeser, H.P.1
  • 23
    • 0028895749 scopus 로고
    • A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
    • Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, Morita H, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995; 9: 267-72.
    • (1995) Nat Genet , vol.9 , pp. 267-272
    • Yoshida, K.1    Furihata, K.2    Takeda, S.3    Nakamura, A.4    Yamamoto, K.5    Morita, H.6
  • 24
    • 0026316759 scopus 로고
    • Increase of glycosylated and non-glycosylated serum ferritin in chronic alcoholism and evolution during alcohol withdrawal
    • Moirand R, Lescoat G, Delamaire D, Loréal O, Deugnier Y, Brissot P. Increase of glycosylated and non-glycosylated serum ferritin in chronic alcoholism and evolution during alcohol withdrawal. Alcohol Clin Exp Res 1991; 15: 963-9.
    • (1991) Alcohol Clin Exp Res , vol.15 , pp. 963-969
    • Moirand, R.1    Lescoat, G.2    Delamaire, D.3    Loréal, O.4    Deugnier, Y.5    Brissot, P.6
  • 25
    • 0029114747 scopus 로고
    • Regulation of ferritin expression by alcohol in a human hepatoblastoma cell line and in rat hepatocyte cultures
    • Moirand R, Kerdavid F, Loréal O, Hubert N, Leroyer P, Brissot P, et al. Regulation of ferritin expression by alcohol in a human hepatoblastoma cell line and in rat hepatocyte cultures. J Hepatol 1995; 23: 431-9.
    • (1995) J Hepatol , vol.23 , pp. 431-439
    • Moirand, R.1    Kerdavid, F.2    Loréal, O.3    Hubert, N.4    Leroyer, P.5    Brissot, P.6
  • 26
    • 0023974608 scopus 로고
    • Gaucher disease
    • Beutler E. Gaucher disease. Blood Rev 1988; 2: 59-70.
    • (1988) Blood Rev , vol.2 , pp. 59-70
    • Beutler, E.1
  • 28
    • 0029148586 scopus 로고
    • A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract
    • Girelli D, Olivieri O, De Franceschi L, Corrocher R, Bergamaschi G. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. Br J Haematol 1995; 90: 931-4.
    • (1995) Br J Haematol , vol.90 , pp. 931-934
    • Girelli, D.1    Olivieri, O.2    De Franceschi, L.3    Corrocher, R.4    Bergamaschi, G.5
  • 29
    • 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, Scoazec JY, Berthier M, Loiseau MN, 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    Scoazec, J.Y.4    Berthier, M.5    Loiseau, M.N.6
  • 30
    • 0026601599 scopus 로고
    • Liver pathology in genetic hemqchromatosis: A review of 135 homozygous cases and their bioclinical correlations
    • Deugnier Y, Loréal O, Turlin B, Guyader D, Jouanolle H, Moirand R, et al. Liver pathology in genetic hemqchromatosis: a review of 135 homozygous cases and their bioclinical correlations. Gastroenterology 1992; 102: 2050-9. .
    • (1992) Gastroenterology , vol.102 , pp. 2050
    • Deugnier, Y.1    Loréal, O.2    Turlin, B.3    Guyader, D.4    Jouanolle, H.5    Moirand, R.6
  • 32
    • 0019352109 scopus 로고
    • Assessment of liver iron content in 271 patients: A réévaluation of direct and indirect methods
    • Brissot P, Bourel M, Kerry D, Verger JP, Messner M, Beaumont C, et al. Assessment of liver iron content in 271 patients: a réévaluation of direct and indirect methods. Gastroenterology 1981; 80: 557-65. . "
    • (1981) Gastroenterology , vol.80 , pp. 557-565
    • Brissot, P.1    Bourel, M.2    Kerry, D.3    Verger, J.P.4    Messner, M.5    Beaumont, C.6
  • 33
    • 0028044926 scopus 로고
    • Determination of hepatic iron concentration in fresh and paraffinembedded tissue: Diagnostic implications
    • Olynyk JK, O'Neill R, Britton RS, Bacon BR. Determination of hepatic iron concentration in fresh and paraffinembedded tissue: diagnostic implications. Gastroenterology 1994; 106: 674-7.
    • (1994) Gastroenterology , vol.106 , pp. 674-677
    • Olynyk, J.K.1    O'Neill, R.2    Britton, R.S.3    Bacon, B.R.4
  • 34
    • 0001265554 scopus 로고    scopus 로고
    • Variability in hepatic iron concentration measurement from needle-biopsy specimens
    • Villeneuve JP, Bilodeau M, Lepage R, Côté J, Lefebvre M. Variability in hepatic iron concentration measurement from needle-biopsy specimens. J Hepatol 1996; 25: 172-7.
    • (1996) J Hepatol , vol.25 , pp. 172-177
    • Villeneuve, J.P.1    Bilodeau, M.2    Lepage, R.3    Côté, J.4    Lefebvre, M.5
  • 36
    • 0030982248 scopus 로고    scopus 로고
    • A reappraisal of liver siderosis in patients with end-stage cirrhosis: Practical implications in the diagnosis hemochromatosis
    • Deugnier Y, Turlin B, Le Quilleuc D, Moirand R, Loréal O, Messner M, et al. A reappraisal of liver siderosis in patients with end-stage cirrhosis: practical implications in the diagnosis hemochromatosis. Am J Surg Pathol 1997; 21: 669-75.
    • (1997) Am J Surg Pathol , vol.21 , pp. 669-675
    • Deugnier, Y.1    Turlin, B.2    Le Quilleuc, D.3    Moirand, R.4    Loréal, O.5    Messner, M.6
  • 37
    • 0027500840 scopus 로고
    • Preneoplastic significance of hepatic ironfree foci in genetic hemochromatosis: A study of 185 patients
    • Deugnier Y, Charalambous P, Le Quilleuc D, Turlin B, Searle J, Brissot P, et al. Preneoplastic significance of hepatic ironfree foci in genetic hemochromatosis: a study of 185 patients. Hepatology 1993; 18: 1363-9.
    • (1993) Hepatology , vol.18 , pp. 1363-1369
    • Deugnier, Y.1    Charalambous, P.2    Le Quilleuc, D.3    Turlin, B.4    Searle, J.5    Brissot, P.6
  • 39
    • 0030864560 scopus 로고    scopus 로고
    • Clinical and family studies in genetic hemochromatosis: Microsatellite and HFE studies in five atypical families
    • Adams PC, Campion ML, Gandon G, LeGall JY, David V, Jouanolle AM. Clinical and family studies in genetic hemochromatosis: microsatellite and HFE studies in five atypical families. Hepatology 1997; 26: 986-90.
    • (1997) Hepatology , vol.26 , pp. 986-990
    • Adams, P.C.1    Campion, M.L.2    Gandon, G.3    Legall, J.Y.4    David, V.5    Jouanolle, A.M.6
  • 41
    • 0031016791 scopus 로고    scopus 로고
    • Increased frequency of-the haemochromatosis C282Y mutation in sporadic porphyria cutanea tarda
    • Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH. Increased frequency of-the haemochromatosis C282Y mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349: 321-3.
    • (1997) Lancet , vol.349 , pp. 321-323
    • Roberts, A.G.1    Whatley, S.D.2    Morgan, R.R.3    Worwood, M.4    Elder, G.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.