메뉴 건너뛰기




Volumn 16, Issue 1, 1996, Pages 83-95

Wilson disease: Genetic basis of copper toxicity and natural history

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALBUMIN; ALKALINE PHOSPHATASE; BILIRUBIN; CERULOPLASMIN; COPPER; DIAMINE; DIANISIDINE; DIMERCAPROL; GENE PRODUCT; GLUTATHIONE; LIPID; METALLOTHIONEIN; MITOCHONDRIAL DNA; PENICILLAMINE; PROTEIN; TETRATHIOMOLYBDIC ACID; TRIENTINE; ZINC DERIVATIVE;

EID: 0029874633     PISSN: 02728087     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-1007221     Document Type: Article
Times cited : (133)

References (93)
  • 2
    • 0342372868 scopus 로고
    • Assignment of the gene for Wilson disease to chromosome 13: Linkage to the esterase D locus
    • Frydman M, Bonne-Tammir B, Farrer LA, et al: Assignment of the gene for Wilson disease to chromosome 13: Linkage to the esterase D locus. Proc Natl Acad Sci 82:1819-21, 1985.
    • (1985) Proc Natl Acad Sci , vol.82 , pp. 1819-1821
    • Frydman, M.1    Bonne-Tammir, B.2    Farrer, L.A.3
  • 3
    • 0023734612 scopus 로고
    • Eight closely linked loci place the Wilson disease locus within 13q14-q21
    • Bowcock AM, Farrer LA, Hebert JM, et al: Eight closely linked loci place the Wilson disease locus within 13q14-q21. Am J Hum Genet 43:664-74, 1988.
    • (1988) Am J Hum Genet , vol.43 , pp. 664-674
    • Bowcock, A.M.1    Farrer, L.A.2    Hebert, J.M.3
  • 4
    • 0025952952 scopus 로고
    • Predictive testing for Wilson's disease using tightly linked and flanking DNA markers
    • Farrer LA, Bowcock AM, Hebert JM, et al: Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology 41:992-9, 1991.
    • (1991) Neurology , vol.41 , pp. 992-999
    • Farrer, L.A.1    Bowcock, A.M.2    Hebert, J.M.3
  • 5
    • 0027375853 scopus 로고
    • A 45 megabase yeast artificial chromosome antigen from human chromosome 13q14.3 ordering 9 polymorphic microsatellites (22 sequence-tagged sites) tightly linked to the Wilson's disease locus
    • White A, Tomfohrde J, Stewart E, et al: A 45 megabase yeast artificial chromosome antigen from human chromosome 13q14.3 ordering 9 polymorphic microsatellites (22 sequence-tagged sites) tightly linked to the Wilson's disease locus. Proc Natl Acad Sci 90:10105-9, 1993.
    • (1993) Proc Natl Acad Sci , vol.90 , pp. 10105-10109
    • White, A.1    Tomfohrde, J.2    Stewart, E.3
  • 6
    • 0027364961 scopus 로고
    • The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
    • Tanzi RE, Petrukhin K, Chernov I, et al: The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344-50, 1993.
    • (1993) Nat Genet , vol.5 , pp. 344-350
    • Tanzi, R.E.1    Petrukhin, K.2    Chernov, I.3
  • 7
    • 0027427695 scopus 로고
    • Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
    • Petrukhin K, Fischer SG, Pirastu M, et al: Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 5:338-43, 1993.
    • (1993) Nat Genet , vol.5 , pp. 338-343
    • Petrukhin, K.1    Fischer, S.G.2    Pirastu, M.3
  • 8
    • 0027452091 scopus 로고
    • The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
    • Bull PC, Thomas GR, Rommens JM, et al: The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5:327-37, 1993.
    • (1993) Nat Genet , vol.5 , pp. 327-337
    • Bull, P.C.1    Thomas, G.R.2    Rommens, J.M.3
  • 9
    • 0027431996 scopus 로고
    • Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
    • Yamaguchi Y, Heiny ME, Gitlin JD: Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 197:271-7, 1993.
    • (1993) Biochem Biophys Res Commun , vol.197 , pp. 271-277
    • Yamaguchi, Y.1    Heiny, M.E.2    Gitlin, J.D.3
  • 10
    • 0028040512 scopus 로고
    • Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions
    • Petrukhin K, Lutsenko S, Chernov I, et al: Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 3:1647-56, 1994.
    • (1994) Hum Mol Genet , vol.3 , pp. 1647-1656
    • Petrukhin, K.1    Lutsenko, S.2    Chernov, I.3
  • 11
    • 0028233790 scopus 로고
    • Copper pumping ATPases: Common concepts in bacteria and man
    • Solioz M, Odermatt A, Krapf R: Copper pumping ATPases: common concepts in bacteria and man [Review]. FEBS Lett 346:44-7, 1994.
    • (1994) FEBS Lett , vol.346 , pp. 44-47
    • Solioz, M.1    Odermatt, A.2    Krapf, R.3
  • 12
    • 0028869945 scopus 로고
    • The Wilson disease gene: Spectrum of mutations and their consequences
    • Thomas GR, Forbes JR, Roberts EA, et al: The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 9:210-7, 1995.
    • (1995) Nat Genet , vol.9 , pp. 210-217
    • Thomas, G.R.1    Forbes, J.R.2    Roberts, E.A.3
  • 13
    • 0021858066 scopus 로고
    • Absorption, transport, and hepatic metabolism of copper and zinc: Special reference to metallothionein and ceruloplasmin
    • Cousins RJ: Absorption, transport, and hepatic metabolism of copper and zinc: special reference to metallothionein and ceruloplasmin. Physiol Rev 65:238-309, 1985.
    • (1985) Physiol Rev , vol.65 , pp. 238-309
    • Cousins, R.J.1
  • 14
    • 0001504685 scopus 로고
    • Disorders of copper metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York, McGraw Hill 1
    • Danks DM: Disorders of copper metabolism. In: The metabolic basis of inherited disease. Scriver CR, Beaudet AL, Sly WS, Valle D (eds). Vol 1. New York, McGraw Hill 1:1411-31, 1989
    • (1989) The Metabolic Basis of Inherited Disease , vol.1 , pp. 1411-1431
    • Danks, D.M.1
  • 16
    • 0024615990 scopus 로고
    • Synthesis and copper (II) binding properties of the N-terminal peptide of human β-α-fetoprotein
    • Lan SJ, Laussac JP, Sarkar B: Synthesis and copper (II) binding properties of the N-terminal peptide of human β-α-fetoprotein. Biochem J 257:745-50, 1989.
    • (1989) Biochem J , vol.257 , pp. 745-750
    • Lan, S.J.1    Laussac, J.P.2    Sarkar, B.3
  • 17
    • 0024554012 scopus 로고
    • The role of glutathione in copper metabolism and toxicity
    • Freedman JH, Ciriolo MR, Peisach J: The role of glutathione in copper metabolism and toxicity. J Biol Chem 264:5598-605, 1989.
    • (1989) J Biol Chem , vol.264 , pp. 5598-5605
    • Freedman, J.H.1    Ciriolo, M.R.2    Peisach, J.3
  • 18
    • 0027516426 scopus 로고
    • Inhibition of the copper incorporation into ceruloplasmin leads to the deficiency in serum ceruloplasmin activity in Long-Evans Cinnamon mutant rat
    • Yamada T, Agui Y, Suzuki Y, Sato M, Matsumoto K: Inhibition of the copper incorporation into ceruloplasmin leads to the deficiency in serum ceruloplasmin activity in Long-Evans Cinnamon mutant rat. J Biol Chem 268:8965-71, 1993.
    • (1993) J Biol Chem , vol.268 , pp. 8965-8971
    • Yamada, T.1    Agui, Y.2    Suzuki, Y.3    Sato, M.4    Matsumoto, K.5
  • 19
    • 0014939521 scopus 로고
    • Studies on the rate of release and turnover of ceruloplasmin and apoceruloplasmin in rat plasma
    • Holtzman NA, Gaumnitz BM: Studies on the rate of release and turnover of ceruloplasmin and apoceruloplasmin in rat plasma. J Biol Chem 245:2350-3, 1970.
    • (1970) J Biol Chem , vol.245 , pp. 2350-2353
    • Holtzman, N.A.1    Gaumnitz, B.M.2
  • 20
    • 0025892297 scopus 로고
    • Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis. A model of Wilson's disease
    • Li Y, Togashi Y, Sato S, et al: Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis. A model of Wilson's disease. J Clin Invest 87:1858-61, 1991.
    • (1991) J Clin Invest , vol.87 , pp. 1858-1861
    • Li, Y.1    Togashi, Y.2    Sato, S.3
  • 21
    • 0028903555 scopus 로고
    • Failure of copper incorporation into ceruloplasmin in the Golgi apparatus of LEC rat hepatocytes
    • Murata Y, Yamakawa E, Iizuka T, et al: Failure of copper incorporation into ceruloplasmin in the Golgi apparatus of LEC rat hepatocytes. Biochem Biophys Res Commun 209:349-55, 1995.
    • (1995) Biochem Biophys Res Commun , vol.209 , pp. 349-355
    • Murata, Y.1    Yamakawa, E.2    Iizuka, T.3
  • 22
    • 0028801746 scopus 로고
    • Copper incorporation into ceruloplasmin in rat livers
    • Terada K, Kawarda Y, Muira N, et al: Copper incorporation into ceruloplasmin in rat livers. Biochim Biophys Acta 1270:58-62, 1995.
    • (1995) Biochim Biophys Acta , vol.1270 , pp. 58-62
    • Terada, K.1    Kawarda, Y.2    Muira, N.3
  • 23
    • 0015968328 scopus 로고
    • Defective biliary excretion of copper in Wilson's disease
    • Frommer DJ: Defective biliary excretion of copper in Wilson's disease. Gut 15:125-9, 1974.
    • (1974) Gut , vol.15 , pp. 125-129
    • Frommer, D.J.1
  • 25
    • 0015545665 scopus 로고
    • Lysosomal defect of hepatic copper excretion in Wilson's disease (hepatolenticular degeneration)
    • Sternlieb I, van den Hamer CJA, Morell AG, et al: Lysosomal defect of hepatic copper excretion in Wilson's disease (hepatolenticular degeneration). Gastroenterology 64:99-105, 1973.
    • (1973) Gastroenterology , vol.64 , pp. 99-105
    • Sternlieb, I.1    Van den Hamer, C.J.A.2    Morell, A.G.3
  • 26
    • 0015535059 scopus 로고
    • Studies on the nature and excretion of biliary copper in man
    • Gollan JL, Deller DT: Studies on the nature and excretion of biliary copper in man. Clin Sci 44:9-15, 1973.
    • (1973) Clin Sci , vol.44 , pp. 9-15
    • Gollan, J.L.1    Deller, D.T.2
  • 27
    • 0000751987 scopus 로고
    • Copper and zinc
    • Arias IM, Boyer JL, Fausto N, Jakoby WB, Schachter D, Shafritz DA, (eds). Raven Press, New York
    • Sternlieb I. Copper and zinc. In: The liver: biology and pathobiology. Arias IM, Boyer JL, Fausto N, Jakoby WB, Schachter D, Shafritz DA, (eds). Raven Press, New York 3:585-96, 1994.
    • (1994) The Liver: Biology and Pathobiology , vol.3 , pp. 585-596
    • Sternlieb, I.1
  • 28
    • 0015589701 scopus 로고
    • The nature of the copper complexes in bile and their relationship to the absorption and excretion of copper in normal subjects and in Wilson's disease
    • Lewis KO: The nature of the copper complexes in bile and their relationship to the absorption and excretion of copper in normal subjects and in Wilson's disease. Gut 14:221-32, 1973.
    • (1973) Gut , vol.14 , pp. 221-232
    • Lewis, K.O.1
  • 29
    • 0024496032 scopus 로고
    • Biliary copper excretion by hepatic lysosomes in the rat. Major excretory pathway in experimental copper overload
    • Gross JB, Myers BM, Kost LJ, et al: Biliary copper excretion by hepatic lysosomes in the rat. Major excretory pathway in experimental copper overload. J Clin Invest 83:30-9, 1989.
    • (1989) J Clin Invest , vol.83 , pp. 30-39
    • Gross, J.B.1    Myers, B.M.2    Kost, L.J.3
  • 30
    • 0027392510 scopus 로고
    • Biliary copper excretion in acutely and chronically copper-loaded rats
    • Harada M, Sakisaka S, Yoshitake M, et al: Biliary copper excretion in acutely and chronically copper-loaded rats. Hepatology 17:111-7, 1993.
    • (1993) Hepatology , vol.17 , pp. 111-117
    • Harada, M.1    Sakisaka, S.2    Yoshitake, M.3
  • 31
    • 0025269826 scopus 로고
    • Two pathways for biliary copper excretion in the rat
    • Houwen R, Dijkstra M, Kuipers F, et al: Two pathways for biliary copper excretion in the rat. Biochem Pharmacol 39:1039-44, 1990.
    • (1990) Biochem Pharmacol , vol.39 , pp. 1039-1044
    • Houwen, R.1    Dijkstra, M.2    Kuipers, F.3
  • 32
    • 0028890459 scopus 로고    scopus 로고
    • Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes
    • Dijkstra M, Veld GI. van den Berg GJ, et al: Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes. J Clin Invest 95:412-6.
    • J Clin Invest , vol.95 , pp. 412-416
    • Dijkstra, M.1    Veld, G.I.2    Van den Berg, G.J.3
  • 33
    • 0029151302 scopus 로고
    • In vitro modelling of liver membrane copper transport
    • Schilsky ML: In vitro modelling of liver membrane copper transport. Hepatology 22:1341-3, 1995.
    • (1995) Hepatology , vol.22 , pp. 1341-1343
    • Schilsky, M.L.1
  • 35
    • 0028043454 scopus 로고
    • Biliary excretion of copper in Fischer rats treated with copper salt and in Long-Evans Cinnamon (LEC) rats with an inherently abnormal copper metabolism
    • Sugawara N, Li D, Katakura M, Sugawara C: Biliary excretion of copper in Fischer rats treated with copper salt and in Long-Evans Cinnamon (LEC) rats with an inherently abnormal copper metabolism. Bio! Trace Elem Res 46:125-34, 1994.
    • (1994) Bio! Trace Elem Res , vol.46 , pp. 125-134
    • Sugawara, N.1    Li, D.2    Katakura, M.3    Sugawara, C.4
  • 36
    • 0027977547 scopus 로고
    • Pleiotropic effect of the LEC mutation: A rodent model of Wilson's disease
    • Schilsky ML, Stockert RJ, Sternlieb I: Pleiotropic effect of the LEC mutation: a rodent model of Wilson's disease. Am J Physiol 266:G907-13, 1994.
    • (1994) Am J Physiol , vol.266
    • Schilsky, M.L.1    Stockert, R.J.2    Sternlieb, I.3
  • 37
    • 0023110671 scopus 로고
    • Endocrine studies of the ovulatory disturbances in Wilson's disease (hepatolenticular degeneration)
    • Kaushansky A, Frydman M, Kaufman H, Jomberg R: Endocrine studies of the ovulatory disturbances in Wilson's disease (hepatolenticular degeneration). Fertil Steril 47:270-3, 1987.
    • (1987) Fertil Steril , vol.47 , pp. 270-273
    • Kaushansky, A.1    Frydman, M.2    Kaufman, H.3    Jomberg, R.4
  • 38
    • 0014672646 scopus 로고
    • "Sunflower cataract" in Wilson's disease
    • Cairns JE, Williams HP, Walshe JM: "Sunflower cataract" in Wilson's disease. BMJ 3:95-6, 1969.
    • (1969) BMJ , vol.3 , pp. 95-96
    • Cairns, J.E.1    Williams, H.P.2    Walshe, J.M.3
  • 39
    • 4644354604 scopus 로고
    • Azure lunulae. An unusual change in the fingernails in two patients with hepatolenticular degeneration (Wilson's disease)
    • Beam AG, McKusick VA: Azure lunulae. An unusual change in the fingernails in two patients with hepatolenticular degeneration (Wilson's disease). JAMA 166:904-6, 1958.
    • (1958) JAMA , vol.166 , pp. 904-906
    • Beam, A.G.1    McKusick, V.A.2
  • 40
    • 0028057852 scopus 로고
    • Liver transplantation for Wilson's disease: Indications and outcome
    • Schilsky ML, Scheinberg IH, Sternlieb I: Liver transplantation for Wilson's disease: indications and outcome. Hepatology 19:583-7, 1994.
    • (1994) Hepatology , vol.19 , pp. 583-587
    • Schilsky, M.L.1    Scheinberg, I.H.2    Sternlieb, I.3
  • 41
    • 0344518809 scopus 로고
    • Hepatolenticular degeneration (Wilson's disease): Two different components
    • Denny-Brown D: Hepatolenticular degeneration (Wilson's disease): two different components. N Engl J Med 270:1149-56, 1964.
    • (1964) N Engl J Med , vol.270 , pp. 1149-1156
    • Denny-Brown, D.1
  • 43
    • 0027483379 scopus 로고
    • Chelational treatment of neurological Wilson's disease
    • Walshe JM, Yealland M: Chelational treatment of neurological Wilson's disease. Q J Med 86:197-204, 1993.
    • (1993) Q J Med , vol.86 , pp. 197-204
    • Walshe, J.M.1    Yealland, M.2
  • 44
    • 0023097124 scopus 로고
    • Clinical assessment of 31 patients with Wilson's disease: Correlations with structural changes on magnetic resonance imaging
    • Starosta-Rubinstein S, Young AB, Kluin K, et al: Clinical assessment of 31 patients with Wilson's disease: correlations with structural changes on magnetic resonance imaging. Arch Neurol 44:365-70, 1987.
    • (1987) Arch Neurol , vol.44 , pp. 365-370
    • Starosta-Rubinstein, S.1    Young, A.B.2    Kluin, K.3
  • 46
    • 0027448042 scopus 로고
    • Wilson's disease: Evidence of subgroups derived from clinical findings and brain lesions
    • Oder W, Prayer L, Grimm F, et al: Wilson's disease: evidence of subgroups derived from clinical findings and brain lesions. Neurology 43:120-4, 1993.
    • (1993) Neurology , vol.43 , pp. 120-124
    • Oder, W.1    Prayer, L.2    Grimm, F.3
  • 47
    • 0025980294 scopus 로고
    • Comparison of functional and structural brain disturbances in Wilson's disease
    • Grimm G, Prayer L, Oder W, et al: Comparison of functional and structural brain disturbances in Wilson's disease. Neurology 41:212-6, 1991.
    • (1991) Neurology , vol.41 , pp. 212-216
    • Grimm, G.1    Prayer, L.2    Oder, W.3
  • 48
    • 0027374666 scopus 로고
    • Correlation of evoked potential and MRI findings in Wilson's disease
    • Selwa LM, Vanderzant CW, Brumberg JA, et al: Correlation of evoked potential and MRI findings in Wilson's disease. Neurology 43:2059-64, 1993.
    • (1993) Neurology , vol.43 , pp. 2059-2064
    • Selwa, L.M.1    Vanderzant, C.W.2    Brumberg, J.A.3
  • 49
    • 0027458772 scopus 로고
    • Magnetic resonance imaging of the brain in Wilson's disease
    • Nazer H, Brismar J, Al-Kawi MZ, et al: Magnetic resonance imaging of the brain in Wilson's disease. Neuroradiology 35:130-3, 1993.
    • (1993) Neuroradiology , vol.35 , pp. 130-133
    • Nazer, H.1    Brismar, J.2    Al-Kawi, M.Z.3
  • 50
    • 0028201010 scopus 로고
    • Initial and follow-up brain MRI findings and correlation with the clinical course in Wilson's disease
    • Roh JK, Lee TG, Wie BA, et al: Initial and follow-up brain MRI findings and correlation with the clinical course in Wilson's disease. Neurology 44:1064-8, 1994.
    • (1994) Neurology , vol.44 , pp. 1064-1068
    • Roh, J.K.1    Lee, T.G.2    Wie, B.A.3
  • 51
    • 0021811905 scopus 로고
    • Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings
    • Ross ME, Jacobson IM, Dienstag JL, Martin JB: Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings. Ann Neurol 17:411-3, 1985.
    • (1985) Ann Neurol , vol.17 , pp. 411-413
    • Ross, M.E.1    Jacobson, I.M.2    Dienstag, J.L.3    Martin, J.B.4
  • 52
    • 0025896410 scopus 로고
    • Wilson's disease with neurological impairment but no Kayser-Fleischer rings
    • letter
    • Willeit J, Kiechl SG: Wilson's disease with neurological impairment but no Kayser-Fleischer rings. Lancet 337:1426, 1991 (letter).
    • (1991) Lancet , vol.337 , pp. 1426
    • Willeit, J.1    Kiechl, S.G.2
  • 53
    • 0017352901 scopus 로고
    • Pigmented corneal rings in non-Wilsonian liver disease
    • Fleming CR, Dickson ER, Wahner HW, et al: Pigmented corneal rings in non-Wilsonian liver disease. Ann Intern Med 86:285-8, 1977.
    • (1977) Ann Intern Med , vol.86 , pp. 285-288
    • Fleming, C.R.1    Dickson, E.R.2    Wahner, H.W.3
  • 54
    • 0027503392 scopus 로고
    • Pseudo-Kayser-Fleischer ring of the cornea associated with non-Wilsonian liver disease. A case report and literature review
    • Tauber J, Steinert RF: Pseudo-Kayser-Fleischer ring of the cornea associated with non-Wilsonian liver disease. A case report and literature review. Cornea 12:74-7, 1993.
    • (1993) Cornea , vol.12 , pp. 74-77
    • Tauber, J.1    Steinert, R.F.2
  • 55
    • 0000852301 scopus 로고
    • Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease)
    • Scheinberg IH, Gitlin D: Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease). Science 116:484-5, 1952.
    • (1952) Science , vol.116 , pp. 484-485
    • Scheinberg, I.H.1    Gitlin, D.2
  • 57
    • 0028903259 scopus 로고
    • Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism
    • Harris LZ, Takahashi Y, Miyajima H, et al: Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci 92:2539-43, 1995.
    • (1995) Proc Natl Acad Sci , vol.92 , pp. 2539-2543
    • Harris, L.Z.1    Takahashi, Y.2    Miyajima, H.3
  • 58
    • 0028895749 scopus 로고
    • A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
    • Yoshida K, Furihata K, Takeda S, et al: A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Gen 9:268-72, 1995.
    • (1995) Nat Gen , vol.9 , pp. 268-272
    • Yoshida, K.1    Furihata, K.2    Takeda, S.3
  • 59
    • 0026535178 scopus 로고
    • Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease
    • Martins da Costa C, Baldwin D, Portmann B, et al: Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. Hepatology 15-609-15, 1992.
    • (1992) Hepatology , vol.15 , pp. 609-615
    • Martins da Costa, C.1    Baldwin, D.2    Portmann, B.3
  • 60
    • 0014336231 scopus 로고
    • Mitochondrial and fatty changes in hepatocytes of patients with Wilson's disease
    • Sternlieb I: Mitochondrial and fatty changes in hepatocytes of patients with Wilson's disease. Gastroenterology 55:354-67, 1968.
    • (1968) Gastroenterology , vol.55 , pp. 354-367
    • Sternlieb, I.1
  • 61
    • 0014377578 scopus 로고
    • Changes in the distribution of hepatic copper in relation to the progression of Wilson's disease (hepatolenticular degeneration)
    • Goldfischer S, Sternlieb I: Changes in the distribution of hepatic copper in relation to the progression of Wilson's disease (hepatolenticular degeneration). Am J Pathol 53:883-901, 1968.
    • (1968) Am J Pathol , vol.53 , pp. 883-901
    • Goldfischer, S.1    Sternlieb, I.2
  • 63
    • 0026700276 scopus 로고
    • Fraternal concordance of types of abnormal hepatocellular mitochondria in Wilson's disease
    • Sternlieb I: Fraternal concordance of types of abnormal hepatocellular mitochondria in Wilson's disease. Hepatology 16:728-32, 1992.
    • (1992) Hepatology , vol.16 , pp. 728-732
    • Sternlieb, I.1
  • 64
    • 0018375555 scopus 로고
    • The role of radiocopper in the diagnosis of Wilson's disease
    • Sternlieb I, Scheinberg IH: The role of radiocopper in the diagnosis of Wilson's disease. Gastroenterology 77:138-42, 1979.
    • (1979) Gastroenterology , vol.77 , pp. 138-142
    • Sternlieb, I.1    Scheinberg, I.H.2
  • 65
    • 0022454685 scopus 로고
    • Low serum alkaline phosphatase activity in Wilson's disease
    • Shaver WA, Bhatt H, Combes B: Low serum alkaline phosphatase activity in Wilson's disease. Hepatology 6:859-63, 1986.
    • (1986) Hepatology , vol.6 , pp. 859-863
    • Shaver, W.A.1    Bhatt, H.2    Combes, B.3
  • 66
    • 0023334136 scopus 로고
    • Unmeasurable serum alkaline phosphatase activity in Wilson's disease associated with fulminant hepatic failure and hemolysis
    • Wilson RA, Clayson KJ, Leon S: Unmeasurable serum alkaline phosphatase activity in Wilson's disease associated with fulminant hepatic failure and hemolysis. Hepatology 7:613-5, 1987.
    • (1987) Hepatology , vol.7 , pp. 613-615
    • Wilson, R.A.1    Clayson, K.J.2    Leon, S.3
  • 67
    • 0020697023 scopus 로고
    • Diagnosis of Wilson's disease presenting as fulminant hepatic failure
    • McCullough AJ, Fleming CR, Thistle JL, et al: Diagnosis of Wilson's disease presenting as fulminant hepatic failure. Gastroenterology 84:161-7, 1983.
    • (1983) Gastroenterology , vol.84 , pp. 161-167
    • McCullough, A.J.1    Fleming, C.R.2    Thistle, J.L.3
  • 68
    • 0025793204 scopus 로고
    • Clinical differentiation of fulminant Wilsonian hepatitis from other causes of hepatic failure
    • Berman DH, Leventhal RI, Gavaler JS, et al: Clinical differentiation of fulminant Wilsonian hepatitis from other causes of hepatic failure. Gastroenterology 100:1129-34, 1991.
    • (1991) Gastroenterology , vol.100 , pp. 1129-1134
    • Berman, D.H.1    Leventhal, R.I.2    Gavaler, J.S.3
  • 69
    • 0026484871 scopus 로고
    • Failure of simple biochemical indexes to reliably differentiate fulminant Wilson's disease from other causes of fulminant liver failure
    • Sallie R, Katsiyiannakis L, Baldwin D, et al: Failure of simple biochemical indexes to reliably differentiate fulminant Wilson's disease from other causes of fulminant liver failure. Hepatology 16:1206-11, 1992.
    • (1992) Hepatology , vol.16 , pp. 1206-1211
    • Sallie, R.1    Katsiyiannakis, L.2    Baldwin, D.3
  • 70
    • 77957187189 scopus 로고
    • The effects of BAL in hepatolenticular degeneration
    • Cumings JN: The effects of BAL in hepatolenticular degeneration. Brain 74:10-22, 1951.
    • (1951) Brain , vol.74 , pp. 10-22
    • Cumings, J.N.1
  • 71
    • 78651036626 scopus 로고
    • The effect of BAL (2,3 dimercaptopropanol) on hepatolenticular degeneration (Wilson's disease)
    • Denny-Brown D, Porter H: The effect of BAL (2,3 dimercaptopropanol) on hepatolenticular degeneration (Wilson's disease). N Engl J Med 245:917-25, 1951.
    • (1951) N Engl J Med , vol.245 , pp. 917-925
    • Denny-Brown, D.1    Porter, H.2
  • 72
    • 77049283245 scopus 로고
    • Penicillamine: A new oral therapy for Wilson's disease
    • Walshe JM: Penicillamine: a new oral therapy for Wilson's disease. Am J Med 21:487-95, 1956.
    • (1956) Am J Med , vol.21 , pp. 487-495
    • Walshe, J.M.1
  • 73
    • 0015882078 scopus 로고
    • Copper chelation in Wilson's disease. A comparison of penicillamine and triethylene tetramine dihydrochloride
    • Walshe JM: Copper chelation in Wilson's disease. A comparison of penicillamine and triethylene tetramine dihydrochloride. Q J Med 42:441-52, 1973.
    • (1973) Q J Med , vol.42 , pp. 441-452
    • Walshe, J.M.1
  • 74
    • 0019817576 scopus 로고
    • An investigation of the effects of intravenous administration of thiomolybdate on copper metabolism in chronic Cu poisoned sheep
    • Goonerame SR, Howell JMC, Gawthorne JM: An investigation of the effects of intravenous administration of thiomolybdate on copper metabolism in chronic Cu poisoned sheep. Br J Nutr 46:46, 1981.
    • (1981) Br J Nutr , vol.46 , pp. 46
    • Goonerame, S.R.1    Howell, J.M.C.2    Gawthorne, J.M.3
  • 76
  • 77
    • 0022508740 scopus 로고
    • Fulminant Wilson's disease treated with postdilution hemofiltration and orthotopic liver transplantation
    • Rakela J, Kurtz SB, McCarthy JT, et al: Fulminant Wilson's disease treated with postdilution hemofiltration and orthotopic liver transplantation. Gastroenterology 90:2004-7, 1986.
    • (1986) Gastroenterology , vol.90 , pp. 2004-2007
    • Rakela, J.1    Kurtz, S.B.2    McCarthy, J.T.3
  • 78
    • 3142651835 scopus 로고
    • Hemofiltration with a high permeability membrane in the treatment of fulminant or end-stage Wilson's disease
    • Denis J, Guerin JM, Opolon P, et al: Hemofiltration with a high permeability membrane in the treatment of fulminant or end-stage Wilson's disease. ASA 10 J 6:36-43, 1983.
    • (1983) ASA 10 J , vol.6 , pp. 36-43
    • Denis, J.1    Guerin, J.M.2    Opolon, P.3
  • 79
    • 0023262532 scopus 로고
    • The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson's disease
    • Scheinberg IH, Jaffe ME, Sternlieb I: The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson's disease. N Engl J Med 317:209-13, 1987.
    • (1987) N Engl J Med , vol.317 , pp. 209-213
    • Scheinberg, I.H.1    Jaffe, M.E.2    Sternlieb, I.3
  • 80
    • 0023178114 scopus 로고
    • Worsening of neurologic syndrome in patients with Wilson's disease with metal penicillamine therapy
    • Brewer GJ, Terry CA, Aisen AM, Hall GM: Worsening of neurologic syndrome in patients with Wilson's disease with metal penicillamine therapy. Arch Neurol 44:490-3, 1987.
    • (1987) Arch Neurol , vol.44 , pp. 490-493
    • Brewer, G.J.1    Terry, C.A.2    Aisen, A.M.3    Hall, G.M.4
  • 81
    • 0028945498 scopus 로고
    • Treatment of the neurologic manifestations of Wilson's disease
    • Scheinberg IH, Sternlieb I: Treatment of the neurologic manifestations of Wilson's disease. Arch Neurol 52:339-40, 1995.
    • (1995) Arch Neurol , vol.52 , pp. 339-340
    • Scheinberg, I.H.1    Sternlieb, I.2
  • 82
    • 0026035891 scopus 로고
    • Initial therapy of patients with Wilson's disease with tetrathiomolybdate
    • Brewer GJ, Dick RD, Yuzbasiyan-Gurkin V, et al: Initial therapy of patients with Wilson's disease with tetrathiomolybdate. Arch Neurol 48:42-7, 1991.
    • (1991) Arch Neurol , vol.48 , pp. 42-47
    • Brewer, G.J.1    Dick, R.D.2    Yuzbasiyan-Gurkin, V.3
  • 83
    • 0028243178 scopus 로고
    • Treatment of Wilson's disease with ammonium tetrathiomolybdate. I. Initial therapy in 17 neurologically affected patients
    • Brewer GJ, Dick RD, Johnson V, et al: Treatment of Wilson's disease with ammonium tetrathiomolybdate. I. Initial therapy in 17 neurologically affected patients. Arch Neurol 51:545-54, 1994.
    • (1994) Arch Neurol , vol.51 , pp. 545-554
    • Brewer, G.J.1    Dick, R.D.2    Johnson, V.3
  • 84
    • 0003029225 scopus 로고
    • 4) as an anti-copper agent in man
    • Scheinberg IH, Walshe JM (eds). Manchester, Manchester University Press
    • 4) as an anti-copper agent in man. In: Orphan diseases and orphan drugs. Scheinberg IH, Walshe JM (eds). Manchester, Manchester University Press, 1986, pp 76-85.
    • (1986) Orphan Diseases and Orphan Drugs , pp. 76-85
    • Walshe, J.M.1
  • 85
    • 0023389279 scopus 로고
    • Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation
    • Polson RJ, Rolles K, Calne RY, et al: Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation. Q J Med 64:685-91, 1987.
    • (1987) Q J Med , vol.64 , pp. 685-691
    • Polson, R.J.1    Rolles, K.2    Calne, R.Y.3
  • 86
    • 0024451656 scopus 로고
    • Hepatocellular copper toxicity and its attentuation by zinc
    • Schilsky ML, Blank RR, Czaja MJ, et al: Hepatocellular copper toxicity and its attentuation by zinc. J Clin Invest 84:1562-8, 1989.
    • (1989) J Clin Invest , vol.84 , pp. 1562-1568
    • Schilsky, M.L.1    Blank, R.R.2    Czaja, M.J.3
  • 87
    • 0018764261 scopus 로고
    • Oral zinc sulphate as long-term treatment in Wilson's disease (hepatolenticular degeneration)
    • Hoogenraad TU, Koevoet R, de Ruyter Korver EG: Oral zinc sulphate as long-term treatment in Wilson's disease (hepatolenticular degeneration). Eur Neurol 18:205-11, 1979.
    • (1979) Eur Neurol , vol.18 , pp. 205-211
    • Hoogenraad, T.U.1    Koevoet, R.2    De Ruyter Korver, E.G.3
  • 88
    • 0028450922 scopus 로고
    • Treatment of Wilson's disease with zinc XIII. Therapy with zinc in presymptomatic patients from the time of diagnosis
    • Brewer GJ, Dick RD, Yuzbasiyan-Gurkan V, et al: Treatment of Wilson's disease with zinc XIII. Therapy with zinc in presymp-tomatic patients from the time of diagnosis. J Lab Clin Med 123:849-58, 1994.
    • (1994) J Lab Clin Med , vol.123 , pp. 849-858
    • Brewer, G.J.1    Dick, R.D.2    Yuzbasiyan-Gurkan, V.3
  • 89
    • 3142580239 scopus 로고
    • Penicillamine prophylaxis for asymptomatic children with Wilson's disease
    • Collins JC, Scheinberg DH, Sternlieb I: Penicillamine prophylaxis for asymptomatic children with Wilson's disease. Hepatology 18:128A, 1993.
    • (1993) Hepatology , vol.18
    • Collins, J.C.1    Scheinberg, D.H.2    Sternlieb, I.3
  • 90
    • 0016752913 scopus 로고
    • Pregnancy in penicillamine treated patients with Wilson's disease
    • Scheinberg IH, Sternlieb I: Pregnancy in penicillamine treated patients with Wilson's disease. N Engl J Med 293:1300-2, 1975.
    • (1975) N Engl J Med , vol.293 , pp. 1300-1302
    • Scheinberg, I.H.1    Sternlieb, I.2
  • 91
    • 0017331429 scopus 로고
    • Pregnancy in Wilson's disease
    • Walshe JM: Pregnancy in Wilson's disease Q J Med 181:73-83, 1977.
    • (1977) Q J Med , vol.181 , pp. 73-83
    • Walshe, J.M.1
  • 92
    • 0022571626 scopus 로고
    • The management of pregnancy in Wilson's disease treated with trientine
    • Walshe JM: The management of pregnancy in Wilson's disease treated with trientine. Q J Med 58:81-7, 1986.
    • (1986) Q J Med , vol.58 , pp. 81-87
    • Walshe, J.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.