EASL Clinical Practice Guidelines: Wilson's disease

Journal of Hepatology

Volumn 56, Issue 3, 2012, Pages 671-685

  Ferenci, Peter ^b   Czlonkowska, Anna ^b   Stremmel, Wolfgang ^b   Houwen, Roderick ^b   Rosenberg, William ^b   Schilsky, Michael ^b   Jansen, Peter ^b   Moradpour, Darius ^b   Gitlin, Jonathan ^b  

^a EASL Office   (Switzerland)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

4 PHENYLBUTYRIC ACID; ALPHA TOCOPHEROL; CERULOPLASMIN; COPPER; CURCUMIN; DIMERCAPROL; LIVER ENZYME; PENICILLAMINE; PYRIDOXINE; TETRATHIOMOLYBDATE AMMONIUM; TETRATHIOMOLYBDIC ACID; TRIENTINE; WILSON DISEASE PROTEIN; ZINC; ZINC SULFATE;

ABORTION; ACUTE LIVER FAILURE; ADJUVANT THERAPY; AGEUSIA; AMINOACIDURIA; AMYLASE BLOOD LEVEL; ANOREXIA; APLASIA; ARTICLE; ASCITES; ATAXIA; BIOACCUMULATION; BLEEDING TENDENCY; BONE MARROW DEPRESSION; BONE MARROW TOXICITY; BRAIN DYSFUNCTION; BREAST FEEDING; CARDIOMYOPATHY; CENTRAL SEROUS RETINOPATHY; CERULOPLASMIN BLOOD LEVEL; CHELATION THERAPY; CHOLESTASIS; CHONDROCALCINOSIS; CHRONIC HEPATITIS; CLINICAL TRIAL (TOPIC); COCHRANE LIBRARY; COMPUTER ASSISTED TOMOGRAPHY; CONTRACEPTION; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE EXACERBATION; DOPPLER ECHOGRAPHY; DRUG DOSE REDUCTION; DRUG WITHDRAWAL; ELASTOSIS; EMBASE; GENETIC SCREENING; GIGANTISM; GOODPASTURE SYNDROME; HELLP SYNDROME; HEMATURIA; HEMOLYSIS; HEMOLYTIC ANEMIA; HEMOSIDEROSIS; HEPATOMEGALY; HISTOCHEMISTRY; HUMAN; HYPERCALCIURIA; IMMUNOASSAY; IMMUNOGLOBULIN A DEFICIENCY; IMPULSIVENESS; INFERTILITY; JAUNDICE; KIDNEY CALCIFICATION; LICHEN PLANUS; LITERATURE; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER HEMOSIDEROSIS; LIVER HISTOLOGY; LIVER NECROSIS; LIVER PARENCHYMA; LIVER TOXICITY; LIVER TRANSPLANTATION; LUPUS LIKE SYNDROME; LYMPHADENOPATHY; MEDLINE; MENTAL DETERIORATION; MENTAL DISEASE; MUTATIONAL ANALYSIS; MYASTHENIA GRAVIS; MYOPATHY; NEPHROLITHIASIS; NEPHROTOXICITY; NEUROLOGIC DISEASE; NEURORADIOLOGY; NEUTROPENIA; NONALCOHOLIC FATTY LIVER; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOARTHRITIS; PANCREATITIS; PARKINSON DISEASE; PERSONALITY DISORDER; POLYMYOSITIS; PORTAL HYPERTENSION; POSTOPERATIVE COMPLICATION; PRACTICE GUIDELINE; PREGNANCY; PRIORITY JOURNAL; PROGNOSIS; PROTEINURIA; RASH; SIDE EFFECT; SIDEROBLASTIC ANEMIA; SIDEROSIS; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SLIT LAMP; SPLENOMEGALY; SPONTANEOUS ABORTION; STEATOSIS; STOMACH IRRITATION; SYSTEMATIC REVIEW; TERATOGENICITY; THROMBOCYTOPENIA; TREMOR; TRIACYLGLYCEROL LIPASE BLOOD LEVEL; URINALYSIS; URINE VOLUME; VIRUS HEPATITIS; VOMITING; WILSON DISEASE;

EID: 84857342910     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2011.11.007     Document Type: Article

References (159)

1. Scheinberg IH, Sternlieb I. Wilson's disease. In: Smith Jr LH, editor. Major problems in internal medicine, vol. 23. Philadelphia, PA: WB Saunders; 1984. p. 25-35.
2. J.D. Gitlin Wilson disease Gastroenterology 125 2003 1868 1877
3. T.Y. Tao, and J.D. Gitlin Hepatic copper metabolism: insights from genetic disease Hepatology 37 2003 1241 1247
4. S. Lutsenko, and M.J. Petris Function and regulation of the mammalian copper-transporting ATPases: insights from biochemical and cell biological approaches J Membr Biol 191 2003 1 12
5. P. Ferenci, A. Czlonkowska, U. Merle, F. Szalay, G. Gromadzka, and C. Yurdaydin Late onset Wilson disease Gastroenterology 132 2007 1294 1298
6. Bachmann H, Lössner J, Kühn HJ, Siegemund R. Occurrence, genetics and epidemiology of Wilsońs disease in East Germany. In: Czlonkowska A, van der Hamer CJA, editors. Proc. 5th. Intern. Symposium on Wilson's disease. Technical Univ. Delft 1991. p. 121-128.
7. M. Reilly, L. Daly, and M. Hutchinson An epidemiological study of Wilson's disease in the Republic of Ireland J Neurol Neurosurg Psychiatry 56 1993 298 300
8. D.C. Wilson, M.J. Phillips, D.W. Cox, and E.A. Roberts Severe hepatic Wilson's disease in preschool-aged children J Pediatr 137 2000 719 722
9. A. Ala, J. Borjigin, A. Rochwarger, and M. Schilsky Wilson disease in septuagenarian siblings: raising the bar for diagnosis Hepatology 41 2005 668 670
10. A. Czlonkowska, M. Rodo, and G. Gromadzka Late onset Wilson's disease: therapeutic implications Mov Disord 23 2008 897 899
11. P. Steindl, P. Ferenci, H.P. Dienes, G. Grimm, I. Pabinger, and C.H. Madl Wilsońs disease in patients presenting with liver disease: a diagnostic challenge Gastroenterology 113 1997 212 218
12. P.J. Gow, R.A. Smallwood, P.W. Angus, A.L. Smith, A.J. Wall, and R.B. Sewell Diagnosis of Wilson's disease: an experience over three decades Gut 46 2000 415 419
13. Sanchez-Albisua I, Garde T, Hierro L, Camarena C, Frauca E, de la Vega A, et al. A high index of suspicion: the key to an early diagnosis of Wilson's disease in childhood. J Pediatr Gastroenterol Nutr 1999;28:186-190.
14. J.E. Cairns, H.P. Williams, and J.M. Walshe "Sunflower cataract" in Wilson's disease Br Med J 3 1969 95 96
15. J.M. Walshe, and A.K. Dixon Dangers of non-compliance in Wilson's disease Lancet 12 1986 845 847
16. C. Eisenbach, O. Sieg, W. Stremmel, J. Encke, and U. Merle Diagnostic criteria for acute liver failure due to Wilson disease World J Gastroenterol 13 2007 1711 1714
17. J.M. Walshe The liver in Wilson's disease L. Schiff, E.R. Schiff, Diseases of the Liver. 6th ed 1987 Lippincott Philadelphia 1037 1050
18. T. Saito Presenting symptoms and natural history of Wilson disease Eur J Pediatr 146 1987 261 265
19. A. Czlonkowska, G. Gromadzka, J. Buttner, and G. Chabik Clinical features of hemolysis, elevated liver enzymes and low platelet count syndrome in undiagnosed Wilson disease: report of two cases Arch Gynecol Obstet 281 2009 129 134
20. A. Czlonkowska A study of haemolysis in Wilson's disease J Neurol Sci 16 1972 303 314
21. Brewer GJ. Neurologically presenting Wilson's Disease. CNS Drugs 2005;19:185-192.
22. P.A. LeWitt, and A. Czlonkowska Wilson's disease R.P. Lisak, D.D. Truong, W.M. Carroll, R. Bhidayasiri, International neurology, a clinical approach 2009 Wiley-Blackwell Oxford UK 644 647
23. M. Svetel, A. Potrebic, T. Pekmezovic, A. Tomic, N. Kresojevic, and R. Jesic Neuropsychiatric aspects of treated Wilson's disease Parkinsonism Relat Disord 15 2009 772 775
24. J. Seniów, B. Mroziak, A. Czlonkowska, and A. Jodryka-Goral Self-rated emotional functioning of patients with neurological or asymptomatic form of Wilson's disease Clin Neuropsychol 17 2004 367 373
25. J. Seniów, T. Bk, J. Gajda, R. Poniatowska, and A. Czlonkowska Cognitive functioning in neurologically symptomatic and asymptomatic forms of Wilson's disease Mov Disord 17 2002 1077 1108
26. U. Merle, M. Schaefer, P. Ferenci, and W. Stremmel Clinical Presentation, diagnosis and long-term outcome of Wilson disease - a cohort study Gut 56 2007 115 120
27. P. Ferenci, P. Steindl-Munda, W. Vogel, W. Jessner, M. Gschwantler, and R. Stauber Diagnostic value of quantitative hepatic copper determination in patients with Wilson disease Clin Gastroenterol Hepatol 3 2005 811 818
28. E. Azizi, G. Eshel, and M. Aladjem Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease Eur J Pediatr 148 1989 548 549
29. S.Y. Nakada, M.R. Brown, and R. Rabinowitz Wilson's disease presenting as symptomatic urolithiasis: a case report and review of the literature J Urol 152 1994 978 979
30. Factor SM, Cho S, Sternlieb I, Scheinberg IH, Goldfischer S. The cardiomyopathy of Wilson's disease. Myocardial alterations in nine cases. Virchows Arch [Pathol Anat] 1982;397:301-311.
31. C.C. Chu, C.C. Huang, and N.S. Chu Recurrent hypokalemic muscle weakness as an initial manifestation of Wilson's disease Nephron 73 1996 477 479
32. D.N. Golding, and J.M. Walshe Arthropathy of Wilson's disease. Study of clinical and radiological features in 32 patients Ann Rheum Dis 36 1977 99 111
33. T.O. Carpenter, D.L. Carnes Jr, and C.S. Anast Hypoparathyroidism in Wilson's disease N Engl J Med 309 1983 873 877
34. Z. Weizman, E. Picard, Y. Barki, and S. Moses Wilson's disease associated with pancreatitis J Pediatr Gastroenterol Nutr 7 1988 931 933
35. J.G. Klee Undiagnosed Wilson's disease as cause of unexplained miscarriage Lancet 2 1979 423
36. B. Tarnacka, M. Rodo, S. Cichy, and A. Czlonkowska Procreation ability in Wilson's disease Acta Neurol Scand 101 2000 395 398
37. A. Czlonkowska, B. Tarnacka, T. Litwin, J. Gajda, and M. Rodo Wilson's disease - cause of mortality in 164 patients during 1992-2003 observation period J Neurol 252 2005 698 703
38. W. Stremmel, K.W. Meyerrose, C. Niederau, H. Hefter, G. Kreuzpaintner, and G. Strohmeyer Wilson's disease: clinical presentation, treatment, and survival Ann Intern Med 115 1991 720 726
39. H. Nazer, R.J. Ede, A.P. Mowat, and R. Williams Wilson's disease: clinical presentation and use of prognostic index Gut 27 1986 1377 1381
40. A. Dhawan, R.M. Taylor, P. Cheeseman, P. De Silva, L. Katsiyiannakis, and G. Mieli-Vergani Wilson's disease in children: 37-year experience and revised King's score for liver transplantation Liver Transplant 11 2005 441 448
41. R. Arnon, R. Annunziato, M. Schilsky, T. Miloh, Willis, and M. Sturdevant Liver transplantation for children with Wilson disease: comparison of outcomes between children and adults Clin Transplant 25 2011 E52 E60
42. E. Cauza, T. Maier-Dobersberger, and P. Ferenci Plasma ceruloplasmin as screening test for Wilson's disease J Hepatol 27 1997 358 362
43. P. Ferenci, K. Caca, G. Loudianos, G. Mieli-Vergani, S. Tanner, and I. Sternlieb Diagnosis and phenotypic classification of Wilson disease Liver Int 23 2003 139 142
44. E. Nicastro, G. Ranucci, P. Vajro, A. Vegnente, and R. Iorio Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease Hepatology 52 2010 1948 1956
45. E. Frieden, and H.S. Hsieh Ceruloplasmin: the copper transport protein with essential oxidase activity Adv Enzymol 44 1976 187 236
46. G. Gromadzka, G. Chabik, T. Mendel, A. Wierzchowska, M. Rudnicka, and A. Czlonkowska Middle-aged heterozygous carriers of Wilson's disease do not present with significant phenotypic deviations related to copper metabolism J Genet 89 2010 463 467
47. Z.L. Harris, L.W. Klomp, and J.D. Gitlin Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis Am J Clin Nutr 67 1998 S972 S977
48. J.A. Perman, S.L. Werlin, R.J. Grand, and J.B. Watkins Laboratory measures of copper metabolism in the differentiation of chronic active hepatitis and Wilson disease in children J Pediatr 94 1979 564 568
49. J.D. Korman, I. Volenberg, J. Balko, J. Webster, F.V. Schiodt, and R.H. Squires Jr. Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests Hepatology 48 2008 1167 1174
50. U. Merle, C. Eisenbach, K.H. Weiss, S. Tuma, and W. Stremmel Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson's disease J Hepatol 51 2009 925 930
51. Danks DM. Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. New York: McGraw-Hill; 1995. p. 4125-4158.
52. E.A. Roberts, and D.W. Cox Wilson disease Baillieres Clin Gastroenterol 12 1998 237 256
53. J.B. Gross Jr., J. Ludwig, R.H. Wiesner, J.T. McCall, and N.F. LaRusso Abnormalities in tests of copper metabolism in primary sclerosing cholangitis Gastroenterology 89 1985 272 278
54. R. Giacchino, M.G. Marazzi, A. Barabino, L. Fasce, B. Ciravegna, and L. Famularo Syndromic variability of Wilson's disease in children. Clinical study of 44 cases Ital J Gastroenterol Hepatol 29 1997 155 161
55. J.B. Tu, and R.Q. Blackwell Studies on levels of penicillamine-induced cupriuresis in heterozygotes of Wilson's disease Metabolism 16 1967 507 513
56. D.J. Frommer Urinary copper excretion and hepatic copper concentrations in liver disease Digestion 21 1981 169 178
57. Martins da Costa C, Baldwin D, Portmann B, Lolin Y, Mowat AP, Mieli-Vergani G. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease. Hepatology 1992;15:609-615.
58. T. Muller, S. Koppikar, R.M. Taylor, F. Carragher, B. Schlenck, and P. Heinz-Erian Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children J Hepatol 47 2007 270 276
59. Y.M. Song, and M.D. Chen A single determination of liver copper concentration may misdiagnose Wilson's disease Clin Biochem 33 2000 589 590
60. M.S. Tanner Indian childhood cirrhosis and Tyrolean childhood cirrhosis. Disorders of a copper transport gene? Adv Exp Med Biol 448 1999 127 137
61. J. Ludwig, T.P. Moyer, and J. Rakela The liver biopsy diagnosis of Wilson's disease. Methods in pathology Am J Clin Pathol 102 1994 443 446
62. F.W. Strohmeyer, and K.G. Ishak Histology of the liver in Wilson's disease: a study of 34 cases Am J Clin Pathol 73 1980 12 24
63. S. Strand, W.J. Hofmann, A. Grambihler, H. Hug, M. Volkmann, and G. Otto Hepatic failure and liver cell damage in acute Wilson's disease involve CD95 (APO-1/Fas) mediated apoptosis Nat Med 4 1998 588 593
64. S. Goldfischer, and I. Sternlieb Changes in the distribution of hepatic copper in relation to the progression of Wilson's disease (hepatolenticular degeneration) Am J Pathol 53 1968 883 901
65. I. Sternlieb Mitochondrial and fatty changes in hepatocytes of patients with Wilson's disease Gastroenterology 55 1968 354 367
66. B. Leinweber, J.C. Moller, A. Scherag, U. Reuner, P. Gunther, and C.J.G. Lang Evaluation of the Unified Wilson's Disease Rating Scale (UWDRS) in German patients with treated Wilson's disease Mov Disord 23 2008 54 62
67. A. Czlonkowska, B. Tarnacka, J.C. Moller, B. Leinweber, O. Bandmann, and F. Woimant Unified Wilson's Disease Rating Scale - a proposal for the neurological scoring of Wilson's disease patients Neurol Neurochir Pol 41 2007 1 12
68. van Wassenaer-van Hall HN, van den Heuvel AG, Algra A, Hoogenraad TU, Mali WP. Wilson disease: findings at MR imaging and CT of the brain with clinical correlation. Radiology 1996;198:531-536.
69. B. Tarnacka, W. Szeszkowski, M. Gołbiowski, and A. Czlonkowska MR Spectroscopy in monitoring the treatment of Wilson's disease patients Mov Disord 23 2008 1560 1566
70. D.A. Jacobs, C.E. Markowitz, D.S. Liebeskind, and S.L. Galetta The "double panda sign" in Wilson's disease Neurology 61 2003 969
71. L.K. Prashanth, S. Sinha, A.B. Taly, and M.K. Vasudev Do MRI features distinguish Wilson's disease from other early onset extrapyramidal disorders? An analysis of 100 cases Mov Disord 25 2010 672 678
72. M. Piga, A. Murru, L. Satta, A. Serra, A. Sias, and G. Loi SPECT in the diagnosis of early neurological involvement in Wilson's disease Eur J Nucl Med Mol Imaging 35 2008 716 724
73. U. Walter, K. Królikowski, B. Tarnacka, R. Benecke, A. Czlonkowska, and D. Dressler Sonographic detection of basal ganglia lesions in asymptomatic and symptomatic Wilson disease Neurology 64 2005 1726 1732
74. U. Walter Transcranial sonography in brain disorders with trace metal accumulation Int Rev Neurobiol 90 2010 166 178
75. G. Grimm, W. Oder, L. Prayer, P. Ferenci, and C.H. Madl Prospective follow-up study in Wilson's disease Lancet 336 1990 963 964
76. G. Grimm, C.H. Madl, R. Katzenschlager, W. Oder, P. Ferenci, and A. Gangl Detailed evaluation of brain dysfunction in patients with Wilson's disease EEG Clin Neurophysiol 82 1992 119 124
77. P. Ferenci Wilson's disease Clin Gastroenterol Hepatol 3 2005 726 733
78. P. Ferenci Regional distribution of mutations of the ATP7B gene in patients with Wilson disease - impact on genetic testing Hum Genet 120 2006 151 159
79. G. Loudianos, V. Dessi, M. Lovicu, A. Angius, A.L. Figus, and F. Lilliu Molecular characterization of Wilson disease in the Sardinian population - evidence of a founder effect Hum Mutat 14 1999 294 303
80. G. Loudianos, V. Dessi, M. Lovicu, A. Angius, B. Altuntas, and R. Giacchino Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations J Med Genet 36 1999 833 836
81. E.K. Kim, O.J. Yoo, K.Y. Song, H.W. Yoo, S.Y. Choi, and S.W. Cho Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease Hum Mutat 11 1998 275 278
82. M.S. Nanji, V.T. Nguyen, J.H. Kawasoe, K. Inui, F. Endo, and T. Nakajima Haplotype and mutation analysis in Japanese patients with Wilson disease Am J Hum Genet 60 1997 1423 1429
83. N. Shimizu, H. Nakazono, Y. Takeshita, C. Ikeda, H. Fujii, and A. Watanabe Molecular analysis and diagnosis in Japanese patients with Wilson's disease Pediatr Int 41 1999 409 413
84. D.H. Berman, R.I. Leventhal, J.S. Gavaler, E.M. Cadoff, and D.H. Van Thiel Clinical differentiation of acute Wilsonian hepatitis from other causes of hepatic failure Gastroenterology 100 1991 1129 1134
85. P. Ferenci Diagnosis and current therapy of Wilson's disease Aliment Pharmacol Ther 19 2004 157 165
86. M. Wiggelinkhuizen, M.E. Tilanus, C.W. Bollen, and R.H. Houwen Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease Aliment Pharmacol Ther 29 2009 947 958
87. I.H. Scheinberg, I. Sternlieb, M. Schilsky, and R.J. Stockert Penicillamine may detoxify copper in Wilson's disease Lancet 2 1987 95
88. R.C. Siegel Collagen cross-linking effect of D-penicillamine on crosslinking in vitro J Biol Chem 252 1977 254 259
89. P.E. Lipsky, and M. Ziff The effect of D-penicillamine on mitogen-induced human lymphocyte proliferation: synergistic inhibition by D-penicillamine and copper salts J Immunol 120 1978 1006 1013
90. A. Czlonkowska The influence of prolonged treatment with D-penicillamine on the immune response in Wilson's disease Eur J Clin Pharmacol 12 1977 265 271
91. G.J. Brewer, V. Yuzbasiyan-Gurkan, D.Y. Lee, and H. Appelman Treatment of Wilson's disease with zinc. VI: initial treatment studies J Lab Clin Med 114 1989 633 638
92. D. Perrett The metabolism and pharmacology of D-penicillamine in man J Rheumatol Suppl 7 1981 41 50
93. W.R. Kukovetz, E. Beubler, F. Kreuzig, A.J. Moritz, G. Nimberger, and L. Werner-Breitnecker Bioavailability and pharmacokinetics of D-penicillamine J Rheumatol 10 1983 90 94
94. J.M. Walshe Copper chelation in patients with Wilson's disease. A comparison of penicillamine and triethylene tetramine dihydrochloride Q J Med 42 1973 441 452
95. A. Czlonkowska, J. Gajda, and M. Rodo Effects of long-term treatment in Wilson's disease with D-penicillamine and zinc sulphate J Neurol 243 1996 269 273
96. G.J. Brewer, C.A. Terry, A.M. Aisen, and G.M. Hill Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy Arch Neurol 44 1987 490 493
97. V. Medici, C.P. Trevisan, R. D'Inca, M. Barollo, L. Zancan, and S. Fagiuoli Diagnosis and management of Wilson's disease: results of a single center experience J Clin Gastroenterol 40 2006 936 941
98. C. Becuwe, S. Dalle, S. Ronger-Savle, F. Skowron, B. Balme, and J. Kanitakis Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine Dermatology 210 2005 60 63
99. A. Czlonkowska Myasthenia syndrome during penicillamine treatment Brit Med J 2 1975 726 727
100. Y. Shiono, S. Wakusawa, H. Hayashi, T. Takikawa, M. Yano, and T. Okada Iron accumulation in the liver of male patients with Wilson disease Am J Gastroenterol 96 2001 3147 3151
101. J.M. Walshe Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride Lancet 1 1982 643 647
102. H. Kodama, Y. Murata, T. Iitsuka, and T. Abe Metabolism of administered triethylene tetramine dihydrochloride in humans Life Sci 61 1997 899 907
103. T.R. Borthwick, G.D. Benson, and H.J. Schugar Copper chelating agents. A comparison of cupruretic responses to various tetramines and D-penicillamine J Lab Clin Med 95 1980 575 580
104. B. Sarkar, A. Sass-Kortsak, R. Clarke, S.H. Laurie, and P. Wei A comparative study of in vitro and in vivo interaction of D-penicillamine and triethylene-tetramine with copper Proc R Soc Med 70 1977 13 18
105. J.M. Walshe The management of Wilson's disease with trienthylene tetramine 2HC1 (Trien 2HC1) Prog Clin Biol Res 34 1979 271 280
106. I.H. Scheinberg, M.E. Jaffe, and I. Sternlieb The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson's disease N Engl J Med 317 1987 209 213
107. H. Saito, K. Watanabe, M. Sahara, R. Mochizuki, K. Edo, and Y. Ohyama Triethylene-tetramine (trien) therapy for Wilson's disease Tohoku J Exp Med 164 1991 29 35
108. E.E. Santos Silva, J. Sarles, J.P. Buts, and E.M. Sokal Successful medical treatment of severely decompensated Wilson disease J Pediatr 128 1996 285 287
109. G.J. Brewer, R.D. Dick, V. Johnson, Y. Wang, V. Yuzbasiyan-Gurkan, and K. Kluin Treatment of Wilson's disease with ammonium tetrathiomolybdate: I. Initial therapy in 17 neurologically affected patients Arch Neurol 51 1994 545 554
110. H.M. Alvarez, Y. Xue, C.D. Robinson, M.A. Canalizo-Hernández, R.G. Marvin, and R.A. Kelly Tetrathiomolybdate inhibits copper trafficking proteins through metal cluster formation Science 327 2010 331 334
111. Y. Ogra, and K.T. Suzuki Targeting of tetrathiomolybdate on the copper accumulating in the liver of LEC rats J Inorg Biochem 70 1998 49 55
112. G.J. Brewer, F. Askari, R.B. Dick, J. Sitterly, J.K. Fink, and M. Carlson Treatment of Wilson's disease with tetrathiomolybdate: V. Control of free copper by tetrathiomolybdate and a comparison with trientine Transl Res 154 2009 70 77
113. G.J. Brewer, P. Hedera, K.J. Kluin, M. Carlson, F. Askari, and R.B. Dick Treatment of Wilson disease with ammonium tetrathiomolybdate. III: initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy Arch Neurol 60 2003 379 385
114. G.J. Brewer, F. Askari, M.T. Lorincz, M. Carlson, M. Schilsky, and K.J. Kluin Treatment of Wilson disease with ammonium tetrathiomolybdate. IV: comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease Arch Neurol 63 2006 521 527
115. H. Karunajeewa, A. Wall, J. Metz, and A. Grigg Cytopenias secondary to copper depletion complicating ammonium tetrathiomolybdate therapy for Wilson's disease Aust NZ J Med 28 1998 215 216
116. V. Medici, C.P. Trevisan, M.A. Bigotto, R. D'Inca, D. Martines, and E. Dal Pont Adverse reaction after tetrathiomolybdate treatment for Wilson's disease: a case report Mov Disord 21 2006 2030 2032
117. Q. Pan, C.G. Kleer, K.L. van Golen, J. Irani, K.M. Bottema, and C. Bias Copper deficiency induced by tetrathiomolybdate suppresses tumor growth and angiogenesis Cancer Res 62 2002 4854 4859
118. T.U. Hoogenraad, R. Koevoet, and E.G. de Ruyter Korver Oral zinc sulphate as long-term treatment in Wilson's disease (hepatolenticular degeneration) Eur Neurol 18 1979 205 211
119. G.J. Brewer, V. Yuzbasiyan-Gurkan, and A.B. Young Treatment of Wilson's disease Semin Neurol 7 1987 209 220
120. G.J. Brewer, G.M. Hill, A.S. Prasad, Z.T. Cossack, and P. Rabbani Oral zinc therapy for Wilson's disease Ann Intern Med 99 1983 314 319
121. T.U. Hoogenraad Zinc treatment of Wilson's disease J Lab Clin Med 132 1998 240 241
122. R.J. Cousins Absorption, transport and hepatic metabolism of copper and zinc: special reference to metallothionein and ceruloplasmin Physiol Rev 65 1985 238 309
123. M. Schilsky, R.R. Blank, M.J. Czaja, I.H. Scheinberg, R.J. Stockert, and I. Sternlieb Hepatocellular copper toxicity and its attenuation by zinc J Clin Invest 84 1989 1562 1568
124. A. Pecoud, F. Dozel, and J.L. Schelling The effect of foodstuffs on the absorption of zinc sulfate Clin Pharmacol Ther 17 1975 469 474
125. Ferenci P. Zinc treatment of Wilson's disease. In: Kruse-Jarres JD, Schölmerich J, editors. Zinc and diseases of the digestive tract. Lancaster: Kluwer Academic Publishers;1997. p. 117-124.
126. J.M. Walshe, and N.A. Munro Zinc-induced deterioration in Wilson's disease aborted by treatment with penicillamine, dimercaprol, and a novel zero copper diet Arch Neurol 52 1995 10 11
127. F.H. Linn, R.H. Houwen, J. van Hattum, S. van der Kleij, and K.J. van Erpecum Long-term exclusive zinc monotherapy in symptomatic Wilson disease: experience in 17 patients Hepatology 50 2009 1442 1452
128. K.H. Weiss, D. Gotthardt, D. Klemm, U. Merle, D. Ferenci-Foerster, and M. Schaefer Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease Gastroenterology 140 2011 1189 1198
129. E.A. Roberts, and M.L. Schilsky AASLD practice guidelines: a practice guideline on Wilson disease Hepatology 47 2008 2094 2108
130. J.M. Walshe, and M. Yealland Chelation treatment of neurological Wilson's disease Q J Med 86 1993 197 204
131. M.J. Fryer Potential of vitamin E as an antioxidant adjunct in Wilson's disease Med Hypotheses 73 2009 1029 1030
132. L. Shen, and H.F. Ji Adjunctive vitamin E treatment in Wilson disease, suggestions for future trials Hepatology 51 2010 1864
133. A. von Herbay, H. de Groot, U. Hegi, W. Stremmel, G. Strohmeyer, and H. Sies Low vitamin E content in plasma of patients with alcoholic liver disease, hemochromatosis and Wilson's disease J Hepatol 20 1994 41 46
134. S. Sinha, R. Christopher, G.R. Arunodaya, L.K. Prashanth, G. Gopinath, and H.S. Swamy Is low serum tocopherol in Wilson's disease a significant symptom? J Neurol Sci 228 2005 121 123
135. R.J. Sokol, D. Twedt, J.M. McKim Jr, M.W. Devereaux, F.M. Karrer, and I. Kam Oxidant injury to hepatic mitochondria in patients with Wilson's disease and Bedlington terriers with copper toxicosis Gastroenterology 107 1994 1788 1798
136. P.A. Lang, M. Schenck, J.P. Nicolay, J.U. Becker, D.S. Kempe, and A. Lupescu Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide Nature Med 13 2007 164 170
137. P.V. van den Berghe, J.M. Stapelbroek, E. Krieger, P. de Bie, S.F. van de Graaf, and R.E. de Groot Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin Hepatology 50 2009 1783 1795
138. Sreejayan, and M.N. Rao Nitric oxide scavenging by curcuminoids J Pharm Pharmacol 49 1997 105 107
139. A. Barik, B. Mishra, L. Shen, H. Mohan, R.M. Kadam, and S. Dutta Evaluation of a new copper(II)-curcumin complex as superoxide dismutase mimic and its free radical reactions Free Radic Biol Med 39 2005 811 822
140. A. Khanna, A. Jain, B. Eghtesad, and J. Rakela Liver transplantation for metabolic liver diseases Surg Clin North Am 79 1999 153 162
141. M.L. Schilsky, I.H. Scheinberg, and I. Sternlieb Liver transplantation for Wilson's disease: indications and outcome Hepatology 19 1994 583 587
142. S. Bellary, T. Hassanein, and D.H. Van Thiel Liver transplantation for Wilson's disease J Hepatol 23 1995 373 381
143. E.Y. Yoshitoshi, Y. Takada, F. Oike, S. Sakamoto, K. Ogawa, and H. Kanazawa Long-term outcomes for 32 cases of Wilson's disease after living-donor liver transplantation Transplantation 87 2009 261 267
144. G. Schumacher, K.P. Platz, A.R. Mueller, R. Neuhaus, W. Luck, and J.M. Langrehr Liver transplantation in neurologic Wilson's disease Transplant Proc 33 2001 1518 1519
145. F. Cheng, G.Q. Li, F. Zhang, X.C. Li, B.C. Sun, and L.B. Kong Outcomes of living-related liver transplantation for Wilson's disease: a single-center experience in China Transplantation 87 2009 751 757
146. T. Litwin, G. Gromadzka, and A. Czlonkowska Neurological presentation of Wilson's disease in a patient after liver transplantation Mov Disord 23 2008 743 746
147. I.H. Scheinberg, and I. Sternlieb Pregnancy in penicillamine-treated patients with Wilson's disease N Engl J Med 293 1975 1300 1302
148. G.J. Brewer, V.D. Johnson, R.D. Dick, P. Hedera, J.K. Fink, and K.J. Kluin Treatment of Wilson's disease with zinc XVII: treatment during pregnancy Hepatology 31 2000 364 370
149. Ferenci P. Wilsońs Disease. In: Bacon B, ÓGrady JG, DiBisceglie A, Lake JR, editors. Comprehensive clinical hepatology. [Chapter 24]. Maryland Heights, Miss. USA: Elsevier Mosby; 2005. p. 351-367.
150. S. Sinha, A.B. Taly, L.K. Prashanth, G.R. Arunodaya, and H.S. Swamy Successful pregnancies and abortions in symptomatic and asymptomatic Wilson's disease J Neurol Sci 217 2004 37 40
151. J.M. Walshe The management of pregnancy in Wilson's disease treated with trientine Q J Med 58 1986 81 87
152. U. Messner, H.H. Günter, and S. Niesert Wilson disease and pregnancy. Review of the literature and case report Z Geburtshilfe Neonatol 202 1998 77 79
153. Y. Rubinfeld, Y. Maor, D. Simon, and D. Modai A progressive rise in serum copper levels in women taking oral contraceptives: a potential hazard? Fertil Steril 32 1979 599 601
154. G. Garmizo, and B.J. Frauens Corneal copper deposition secondary to oral contraceptives Optom Vis Sci 85 2008 E802 E807
155. Haimov-Kochman R, Ackerman Z, Anteby EY. The contraceptive choice for a Wilson's disease patient with chronic liver disease. Contraception 1997;56:241-244.
156. J.M. Walshe Wilson's disease presenting with features of hepatic dysfunction: a clinical analysis of eighty-seven patients Q J Med 70 1989 253 263
157. J. Scott, J.L. Gollan, S. Samourian, and S. Sherlock Wilson's disease, presenting as chronic active hepatitis Gastroenterology 74 1978 645 651
158. G.H. Guyatt, A.D. Oxman, G.E. Vist, R. Kunz, Y. Falck-Ytter, and P. Alono-Coello GRADE: an emerging consensus on rating quality of evidence and strength of recommendations BMJ 336 2008 924 926