Copper metabolism and copper storage disorders

Liver Disease in Children, Third Edition

Volumn , Issue , 2007, Pages 626-660

  O’Connor, Judith A ^a   Sokol, Ronald J ^b,c  

^a Sacred Heart Children's Hospital   (United States)

^b University of Colorado Denver and Children s Hospital Colorado   (United States)

^c CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77958147202     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9780511547409.028     Document Type: Chapter

References (372)

1. Klevay LM, Sandstead H, Munoz J, et al. The copper requirement of healthy men. Am J Clin Nutr 1978;31:711.
2. Linder MC, Hazegh-Azam M. Copper biochemistry and molecular biology. Am J Clin Nutr 1996;96(suppl):797–811.
3. Weber PM, O’Reilly S, Pollycove M, et al. Gastrointestinal absorption of copper: studieswith 64Cu, 95Zr, awhole body counter and the scintillation camera. J Nucl Med 1969;10:591–6.
4. Van Campen DR, Scaife PU. Zinc interference with copper absorption in rats. J Nutr 1967;91:473–6.
5. Gollan JL, Davis PS, Deller DJ. A radiometric assay of copper binding in biological fluids and its application to alimentary secretions in normal subjects and Wilson’s disease. Clin Chim Acta 1971;31:197–204.
6. Gollan JL. Studies on the nature of complexes formed by copper withhumanalimentary secretions and their influenceoncopper absorption in the rat. Clin Sci Mol Med 1975;49:237.
7. Kirchgessner M, Grassman E. The dynamics of copper absorption. In: Mills CF, ed. Trace element metabolism in animals. Edinburgh: Churchill Livingstone, 1970:277.
8. Chou T-P, Adolph WH. Copper metabolism in man. Biochem J 1935;29:476–9.
9. Moore T, Constable BJ, Day KC, et al. Copper deficiency in rats fed upon raw meat. Br J Nutr 1964;18:135–46.
10. Schmitt RC, Darwish HM, Cheney JC, et al. Copper transport kinetics by isolated rat hepatocytes. Am J Physiol 1983;244: 1–83.
11. Ettinger MJ, Darwish HM, Schmitt RD. Mechanism of copper transport from plasma to hepatocytes. Fed Proc 1986;45: 2800–4.
12. Zhou B, Gitscher J. h CTRI: a human gene for copper uptake identified by complementation in yeast. Proc Natl Acad Sci USA 1997;94:7481–6.
13. Lee J, Pena M, Nose Y, Thiele D. Biochemical characterization of the human Copper transporter Ctr1. J Biol Chem 2002; 277:4380–7.
14. Harris DIM, Sass-Kortsak A. The influence of amino acids on copper uptake by rat liver slices. J Clin Invest 1967;46:659–67.
15. Klomp LW, Liu SJ, Yuan DS, et al. Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis. J Biol Chem 1997;272:9221–6.
16. Klomp AE, Juijin JA, Vand Der Gun LT, et al. The N-terminus of the human copper transporter 1 (h CTR1) is localized extracellularly, and interacts with itself. Biochem J 2003;370:881–9.
17. Petris MJ, Smith K, Lee J Thiele DJ. Copper-stimulated endocytosis and degradation of the human copper transporter, h Ctr1. J Biol Chem 2003;278:9639–46.
18. Cartwright GE, Hodges RE, Gubler CJ, et al. Studies on copper metabolism. XIII. Hepatolenticular degeneration. J Clin Invest 1954;33:1487–501.
19. Canelas HM, De Jorge FG, Tognola WA. Metabolic balances of copper in patients with hepatolenticular degeneration submittedtovegetarianandmixed diets. JNeurol Neurosurg Psychiatry 1967;30:371–3.
20. Turnlung JR, Keyes WR, Anderson HL, et al. Copper absorption and retention in young men at three levels of dietary copper using the stable isotope, 65Cu. Am J Clin Nutr 1989;49:870–8.
21. Harrison MD, Jones CE, Dameron CT. Copper chaperones: function, structure and copper-binding properties. J Biol Inorg Chem 1999;4:145–53.
22. Rae TD, Torres AS, Pufahl RA, O’Halloran TV. Mechanism of Cu;Zn-superoxide dismutase activation by the human metallochaperone h CCS. J Biol Chem 2001;276:5166–76.
23. O’Halloran TV, Culotta VC. Metallochaperones, an intracellular shuttle service for metal ions. J Biol Chem 2000;275:25057–60.
24. Culotta VC, Klomp LW, Strain J, et al. The copper chaperone for superoxide dismutase. J Biol Chem 1997;272:23469–72.
25. Amaravadi R, Glerum DM, Tzagoloff A. Isolation of a c DNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment. Hum Genet 1997;99: 329–33.
26. Portnoy ME, Rosenzweig AC, Roe T, et al. Structurefunction analyses of the ATX1 metallochaperone. J Biol Chem 1999;274:15041–5.
27. Sternlieb I, Morell AG, Tucker WD, et al. The incorporation of copper into ceruloplasmin in vivo: studies with copper 64 and copper 67. J Clin Invest 1961;40:1834–40.
28. Neifakh SA, Monakhov NK, Shaponshnikov AM, et al. Localization of ceruloplasmin synthesis in human and monkey liver cells and its copper regulation. Experientia 1969;25:337–44.
29. Harris ZL, Klomp LWJ, Gitlin JD. Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. Am J Clin Nutr 1998;67(suppl):972–7.
30. Frieden E, Hsieh HS. The biological role of ceruloplasmin and its oxidase activity. Adv Exp Med Biol 1976;74:505–29.
31. Barass BC, Coult DB, Pinder RM, et al. Substrate specificity of ceruloplasmin indoles and indole isosteres. Biochem Pharmacol 1973;22:2891.
32. Dormandy TL. Free-radical oxidation and antioxidants. Lancet 1978;1:647–50.
33. Cranfield LM, Gollan JL, White AG, et al. Serum antioxidant activity in normal and abnormal subjects. Ann Clin Biochem 1979;16:299–306.
34. Scheinberg IH, Cook CD, Murphy JA. The concentration of copper and ceruloplasmin in maternal and infant plasma at delivery. J Clin Invest 1954;33:963.
35. Schilsky ML, Sternlieb I. Overcoming obstacles to the diagnosis of Wilson’s disease. Gastroenterology 1997;113:350–3.
36. Frommer DJ. Defective biliary excretion of copper in Wilson’s disease. Gut 1974;15:125–9.
37. Van Berge Henegouwen GP, Tangedahl TN, Hofmann AF, et al. Biliary secretion of copper in healthy man. Quantitation by an intestinal perfusion technique. Gastroenterology 1977;72: 1228–31.
38. Van De Sluis B, Rothuizen J, Pearson PL, et al. Identification of a new copper metabolism gene by positional cloning in a purebred dog population Hum Mol Genet 2002;11:165–73.
39. Mueller T, Van de Sluis B, Zhernakova A, et al. The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis. J Hepatol 2003;38:164–8.
40. Tao TY, Liu F, Klomp L, et al. The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. J Biol Chem 2003;278:41593–6.
41. Stuehler B, Reichert J, Stemmel W, Schaefer M. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med 2004;82:629–6.
42. Evans J, Newman S, Sherlock S. Liver copper levels in intrahepatic cholestasis of childhood. Gastroenterology 1978;75:875–8.
43. Fleming CR, Dickson ER, Baggenstoss AH, et al. Copper and primary biliary cirrhosis. Gastroenterology 1974;67:1182–7.
44. Evans GW. Copper homeostasis in the mammalian system. Physiol Rev 1973;53:535–70.
45. Ryden L, Deutsch HF. Preparation and properties of the major copper-binding component in human fetal liver. J Biol Chem 1978;253:519–24.
46. Sternlieb I. Copper and the liver. Gastroenterology 1980;78: 1615–28.
47. Sass-Kortsak A. Copper metabolism. Adv Clin Chem 1965;8: 1–67.
48. Dameron CT, Harrison MD. Mechanisms for protection against copper toxicity. Am J Clin Nutr 1998;67(suppl):1091–7.
49. Twedt DC, Sternlieb I, Gilbertson SR. Clinical morphologic, and chemical studies on copper toxicosis of Bedlington terriers. J Am Vet Med Assoc 1979;175:269–75.
50. Porter H. Copper proteins in brain and liver in normal subjects and in cases of Wilson’s disease. In: Bergsma D, Scheinberg IH, Sternlieb I, eds. Wilson’s disease. Birth defects original article series. Vol. 4. New York:National Foundation–March of Dimes, 1968:23.
51. Reed GB, Butt EM, Landing BH. Copper in childhood liver disease. A histologic, histochemical and chemical survey. Arch Pathol 1972;93:249–55.
52. Walshe JM. Copper: its role in the pathogenesis of liver disease. Semin Liver Dis 1984;4:252–63.
53. Ishmael J, Gopinath C, Howell JM. Experimental chronic copper toxicity in sheep. Histological and histochemical changes during the development of lesions in the liver. Res Vet Sci 1971;12:358.
54. Sternlieb I, Twedt DC, Johnson GF, et al. Inherited copper toxicity of the liver in Bedlington terriers. Proc R Soc Med 1977;70(suppl 3):8–9.
55. Su L-C, Owen CA, Zollman PE, et al. Adefect of biliary excretion of copper in copper-laden Bedlington terriers. Am J Physiol 1982;243:G231–6.
56. Wallin M, Larsson H, Edstrom A. Tubulin sulfhydryl groups and polymerization in vitro. Effects of di- and trivalent cations. Exp Cell Res 1977;107:219–25.
57. Aust SD, Morehouse LA, Thomas CE. Role of metals in oxygen radical reactions. Free Rad Biol Med 1985;1:3–25.
58. Parola M, Robino G, Marra F, et al. HNE interacts directly with JNK isoforms in human hepatic stellate cells. J Clin Invest 1998;102:1942–50.
59. Lee KS, Buck M, Houglum K, et al. Activation of hepatic stellate cells by TGF alpha and collagen type I is mediated by oxidative stress through c-myb expression. J Clin Invest 1995;96:2461–8.
60. Meyers BM, Kuntz SM, La Russo NF. Alterations in the structure and physical properties of hepatic lysosomes in experimental metal overload [abstract]. Hepatology 1987;7:1045.
61. Sokol RJ, Devereaux M, Mierau GW, et al. Oxidant injury to hepatic mitochondrial lipids in rats with dietary copper overload. Modification by vitamin E deficiency. Gastroenterology 1990;99:1061–71.
62. Sokol RJ. Abnormal hepatic mitochondrial respiration and cytochrome C oxidase activity in rats with copper overload. Gastroenterology 1993;105:178–87.
63. Sokol RJ, Twedt D, Mc Kim JM Jr, et al. Oxidant injury to hepatic mitochondria in patients with Wilson’s disease and Bedlington terrierswith copper toxicosis. Gastroenterology 1994;107:1788–98.
64. Mansouri A, Gaou I, Fromenty B, et al. Premature oxidative aging of hepatic mitochondrial DNA in Wilson’s disease. Gastroenterology 1997;113:599–605.
65. Sternlieb I. Mitochondrial and fatty changes in hepatocytes of patients with Wilson’s disease. Gastroenterology 1968;55:354–67.
66. Joshi VV. Indian childhood cirrhosis. Perspect Pediatr Pathol 1987;11:175–92.
67. Coppen DE, Richardson DE, Cousins RJ. Zinc suppression of free radicals in cultures of rat hepatocytes by iron, t-butyl hydroperoxide, and 3-methylindole. Proc Soc Exp Biol Med 1988;189:100–9.
68. Strand S, Hofmann WJ, Grambihler A, et al. Hepatic failure and liver cell damage in acute Wilson’s disease involve CD95 (APO-1/Fas) mediated apoptosis. Nat Med 1998;4:588–93.
69. Yamate J, Kumagai D, Tsujino K, et al. Macrophage populations and apoptotic cells in the liver before spontaneous hepatitis in Long-Evans Cinnamon (LEC) rats. J Comp Pathol 1999;120:333–46.
70. Wilson AK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 1912;34:295.
71. Hall HC. La degenerescence hepato-lenticulaire: maladie de Wilson pseudo-sclerose. Paris: Masson, 1921:190.
72. Cumings JN. The copper and iron content of brain and liver in the normal and in hepatolenticular degeneration. Brain 1948;71:410–15.
73. Scheinberg IH, Gitlin D. Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson’s disease). Science 1952;116:484–5.
74. Walshe JM. Penicillamine, a new oral therapy for Wilson’s disease. Am J Med 1956;21:487–95.
75. Sternlieb I, Scheinberg IH. Prevention of Wilson’s disease in asymptomatic patients. N Engl J Med 1968;278:352–4.
76. Walshe JM. Treatment of Wilson’s disease with trientine (triethylene tetramine) dihydrochloride. Lancet 1982;1:643–7.
77. Sternlieb I. Wilson’s disease: indications for liver transplantation. Hepatology 1984;4(suppl):15–17.
78. Bowcock AM, Farrer LA, Hebert JM, et al. Eight closely linked loci place the Wilson’s disease locus within 13q14-q21. Am J Hum Genet 1988;43:664–74.
79. Honwen RHJ, Roberts EA, Thomas GR, et al. DNA markers for the diagnosis of Wilson’s disease. J Hepatol 1993;17:269–76.
80. Frydman M, Bonn-Tamir B, Farrer LA, et al. Assignment of the gene for Wilson’s disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci U S A 1985;82:1819–21.
81. Bowcock AM, Farrer LA, Cavalli-Sforza LL, et al. Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13. Am J Hum Genet 1987;14:27–35.
82. Petrukhin K, Fischer SG, Pirastu M, et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 1993;5:338–43.
83. Bull PC, Thomas GR, Rommens JM, et al. The Wilson’s disease gene is a putative copper transporting P-type ATPase similar to the Menkes’ gene. Nat Genet 1993;5:327–37.
84. Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver c DNA as a candidate gene for Wilson’s disease. Biochem Biophys Res Commun 1993;197:271–7.
85. Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson’s disease gene is a copper transporting ATPase with homology to the Menkes’ disease gene. Nat Genet 1993;5:344–50.
86. Vandarwarf SM, Cooper MLJ, Stetsenko IV, et al. Copper specifically regulates intracellular phosphorylation of the Wilson’s disease protein, a human copper-transporting ATPase. J Biol Chem 2001;276:36289–94.
87. Schaefer M, Gitlin JD. Genetic disorders of membrane transport. IV. Wilson’s disease and Menkes disease. Am J Physiol 1999;276:G311–14.
88. Lutsenko S, Petris MJ. Function and regulation of the mammalian copper-transporting ATPases: insights from biochemical and cell biological approaches. J Membr Biol 2003;191: 1–12.
89. Cater MA, Forges J, La Fontaine S et al. Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites. Biochem J 2004;380:805–13.
90. Scheinberg IH, Sternlieb I, eds. Wilson’s disease. Philadelphia: WB Saunders, 1984.
91. Ala A, Borjigin J, Rochwarger A, Schilsky M. Wilson disease in septuagenarian siblings: Raising the bar for diagnosis. Hepatology 2005;41:668–70.
92. Wilson DC, Phillips MJ, Cox DW, Roberts EA. Severe hepatic Wilson’s disease in preschool-aged children. J Pediatr 2000;137:719–22.
93. Walshe JM. The liver in Wilson’s disease (hepatolenticular degeneration). In: Schiff L, Schiff ER, eds. Diseases of the liver. Philadelphia: JB Lippincott, 1982:1037–50.
94. Tumer Z, Moller LB, Horn N. Mutation spectrum of ATP7A, the gene defective in Menkes’ disease. Adv Exp Med Biol 1999; 448:83–95.
95. Shah AB, Chernov I, Zhang HT, et al. Wilson’s disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analysis. Am J Hum Genet 1997;61:317–28.
96. Maier-Dobersberger T, Mannhalter C, Rack S, et al. Diagnosis of Wilson’s disease in an asymptomatic sibling by DNA linkage analysis. Gastroenterology 1995;109:2015–18.
97. Maier-Dobersberger T, Ferenci P, Polli C, et al. Detection of the His1069G/nmutations in Wilson’s disease by rapid polymerase chain reaction. Ann Intern Med 1997;127:21–6.
98. Matthews WB. The absorption and excretion of radiocopper in hepatolenticular degeneration (Wilson’s disease). J Neurol Neurosurg Psychiatry 1954;17:242–6.
99. Beam AG, Kunkel HG. Metabolic studies in Wilson’s disease using Cu. J Lab Clin Med 1955;45:623.
100. Sternlieb I, Scheinberg IH. Radiocopper in diagnosing liver disease. Semin Nucl Med 1972;2:176–88.
101. Strickland GT, Beckner WM, Leu M-L. Absorption of copper in homozygotes and heterozygotes for Wilson’s disease and controls: isotope tracer studies with 61Cu and 64Cu. Clin Sci 1972;43:617–25.
102. Gibbs K, Walshe JM. Biliary excretion of copper in Wilson’s disease. Lancet 1980;2:538–9.
103. Sternlieb I, Van den Hamer CJ, Morell AG, et al. Lysosomal defect of hepatic copper excretion in Wilson’s disease (hepatolenticular degeneration). Gastroenterology 1973;64:99–105.
104. Koschinsky ML, Funk WD, Vanoost BA, et al. Complete c DNA sequence of human preceruloplasmin. Proc Natl Acad Sci U S A 1986;83:5086–90.
105. Czaja MJ, Weiner FR, Schwarzenberg SJ, et al. Molecular studies of ceruloplasmin deficiency in Wilson’s disease. J Clin Invest 1987;80:1200–4.
106. Gitlin JD. Aceruloplasminemia. Pediatr Res 1998;44:271–6.
107. Logan JI, Harveyson KB, Wisdom GB, et al. Hereditary ceruloplasmin deficiency, dementia, and diabetes mellitus. Q J Med 1994;87:663–70.
108. Harris ZL, Durley AP, Man TK, et al. Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux. Proc Natl Acad Sci U S A 1999;96:10812–17.
109. Gibbs K, Walshe JM. A study of the ceruloplasmin concentrations found in 75 patients with Wilson’s disease. Their kinships and various control groups. Q J Med 1979;48:447–63.
110. Steindl P, Ferenci P, Dienes HP, et al. Wilson’s disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997;113:212–18.
111. Stremmel W, Meyerrose K-W, Niederau C, et al. Wilson’s disease: clinical presentation, treatment, and survival. Ann Intern Med 1991;115:720–6.
112. Oder W, Grimm G, Kollegger H, et al. Neurological and neuropsychiatric spectrum of Wilson’s disease: a prospective study of 45 cases. J Neurol 1991;238:281–7.
113. Scheinberg IH, Sternlieb I. The long-termmanagement of hepatolenticular degeneration. Am J Med 1960;29:316–33.
114. Wu J, Forbes JR, Shiene Chen H, et al. The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson’s disease gene. Nat Genet 1994;7:541–5.
115. Schilsky ML, Stockert RJ, Sternlieb I. Pleiotropic effect of the LECmutation: a rodent model of Wilson’s disease. Am J Physiol 1994;266:G907–13.
116. Tao YT, Gitlin JD. Hepatic copper metabolism: insights from genetic disease. Hepatology 2003;37:1241–7.
117. Nagano K, Nakamura K, Urakami KI, et al. Intracellular distribution of the Wilson’s disease gene product (ATPase 7B) after in vitro and in vivo exogenous expression in hepatocytes from the LEC rat, an animal model of Wilson’s disease. Hepatology 1998;27:799–807.
118. Forbes JR, His G, Cox DW. Role of the copper-binding domain in the copper transport function of ATP7B proteins. Hum Mol Genet 2000;9:127–35.
119. Harry J, Tripathi R. Kayser-Fleischer ring: a pathologic study. Br J Ophthalmol 1980;54:794–800.
120. Johnson RE, Campbell RJ. Wilson’s disease. Electron microscopic, x-ray energy spectroscopic, and atomic absorption spectroscopic studies of corneal copper deposition and distribution. Lab Invest 1982;46:564–9.
121. Wiebers DO, Hollenhorst RW, Goldstein NP. The ophthalmologic manifestations of Wilson’s disease. Mayo Clin Proc 1977;52:409–16.
122. Demirkiran M, Jankovic J, Lewis RA, Cox DW. Neurologic presentation of Wilson Disease without Kayser-Fleischer rings. Neurology 1996;46:1040–3.
123. Fleming CR, Dickson ER, Hollenhorst RW, et al. Pigmented corneal rings in a patient with primary biliary cirrhosis. Gastroenterology 1975;69:220–5.
124. Fleming CR, Dickson ER, Walmer HW, et al. Pigmented corneal rings in non-Wilsonian liver disease. Ann Intern Med 1977;86:285–8.
125. Jones EA, Rabin L, Buckley CH, et al. Progressive intrahepatic cholestasis of infancy and childhood. A clinicopathological study of a patient surviving to the age of 18 years. Gastroenterology 1976;71:675–82.
126. Rimola A, Bruguera M, Rodes J. Kayser-Fleischer–like rings in cryptogenic cirrhosis. Arch Intern Med 1978;138:1857–8.
127. Kaplinsky C, Sternlieb I, Javitt N, et al. Familial cholestatic cirrhosis associated with Kayser-Fleischer rings. Pediatrics 1980; 65:782–8.
128. Dunn LL, Annable WL, Kliegman RM. Pigmented corneal rings in neonates with liver disease. J Pediatr 1987;110:771–6.
129. Cairns JE, Williams BP, Walshe JM. “Sunflower cataract” in Wilson’s disease. BMJ 1969;3:95–6.
130. Rosenthal AR, Marmor MF, Levenberger PL. Chalcosis: a study of natural history. Ophthalmology 1979;86:1956–72.
131. Silverberg M, Gellis SS. The liver in juvenile Wilson’s disease. Pediatrics 1962;30:402–13.
132. Chalmers TC, Iber FL, Uzman LL. Hepatolenticular degeneration (Wilson’s disease) as a formof idiopathic cirrhosis. N Engl J Med 1957;256:235–42.
133. Sokol RJ, Francis PO, Gold SH, et al. Orthotopic liver transplantation for acute fulminant Wilson’s disease. J Pediatr 1985; 107:549–52.
134. Forbes JR, Cox DW. Functional characterization of missense mutations in ATP7B:Wilson’s diseasemutation or normal variant? Am J Hum Genet 1998;63:1663–74.
135. Kraut JR, Yogev R. Fatal fulminant hepatitis with hemolysis in Wilson’s disease. Clin Pediatr 1984;23:637–40.
136. Adler R, Mahnovski V, Heuser ET, et al. Fulminant hepatitis: a presentation of Wilson’s disease. Am J Dis Child 1977;131:870–2.
137. Roche-Sicot J, Benhamou J-P. Acute intravascular hemolysis and acute liver failure associated as a first manifestation of Wilson’s disease. Ann Intern Med 1977;86:301–3.
138. Harnlyn AN, Gollan JL, Douglas AP, et al. Fulminant Wilson’s disease with haemolysis and renal failure: copper studies and assessment of dialysis regimens. BMJ 1977;2:660–3.
139. Vielhauer W, Eckadt V, Holtertnuller KH, et al. D-penicillamine in Wilson’s disease presenting as acute liver failure and hemolysis. Dig Dis Sci 1982;27:1126–9.
140. Doering EJ, Savage RA, Dittmer TE. Hemolysis, coagulation defects, and fulminant hepatic failures: a presentation of Wilson’s disease. Am J Dis Child 1979;133:440–1.
141. McCullough AJ, Wiesner RH, Fleming CR, et al. Antemortem diagnosis and short-term survival of a patient with Wilson’s disease presenting as fulminant hepatic failure. Dig Dis Sci 1984;9:862–4.
142. 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 1987;317:209–13.
143. Walshe JM, Dixon AK. Dangers of non-compliance in Wilson’s disease. Lancet 1986;1:845–7.
144. Sternlieb I, Scheinberg IH. Chronic hepatitis as a first manifestation of Wilson’s disease. Ann Intern Med 1972;76:59–64.
145. Perman JA, Werlin SL, Grand RJ, et al. Laboratory measures of copper metabolism in the differentiation of chronic active hepatitis and Wilson’s disease in children. J Pediatr 1979;94:564–8.
146. Schilsky ML, Scheinberg IH, Sternlieb I. Prognosis of Wilsonian chronic active hepatitis. Gastroenterology 1991;100:762–7.
147. Scott J, Gollan JL, Samourian S, et al. Wilson’s disease presenting as chronic active hepatitis. Gastroenterology 1978;74:645–51.
148. Santus-Silva EE, Sarles J, Buts JP, et al. Successful medical treatment of severely decompensated Wilson’s disease. J Pediatr 1996;128:285–7.
149. Czaja AJ. Natural history, clinical features, and treatment of autoimmune hepatitis. Semin Liver Dis 1984;4:1–12.
150. Lashner BA, Jones RB, Tang HS, et al. Chronic hepatitis: disease factors at diagnosis predictive of mortality. Am J Med 1988;85:609–14.
151. Taylor WJ, Jackson EC, Jensen WN. Wilson’s disease, portal hypertension and extrahepatic vascular obstruction. N Engl J Med 1959;260:1160–4.
152. Strickland GT, Chang NK, Beckner WM. Hypersplenism in Wilson’s disease. Gut 1972;13:220–4.
153. Sternlieb I, Scheinberg IH, Walshe JM. Bleeding esophageal varices in patients with Wilson’s disease. Lancet 1970;1:638–41.
154. Rosenfield N, Grand RJ, Watkins JB, et al. Cholelithiasis and Wilson’s disease. J Pediatr 1978;92:210–13.
155. Walshe JM, Waldenstrom E, Sams V, et al. Abdominal malignancies in patients with Wilson’s disease. Q JMed 2003;96:657–62.
156. Lau JYN, Lai CL, Wu PC, et al. Wilson’s disease: 35 years’ experience. Q J Med 1990;75:597–605.
157. Strickland GT, Frommer D, Leu M-L, et al. Wilson’s disease in the United Kingdom and Taiwan. I. General characteristics of 142 cases and prognosis. II. A genetic analysis of 88 cases. Q J Med 1973;42:619–38.
158. Saito T. Presenting symptoms and natural history of Wilson’s disease. Eur J Pediatr 1987;146:261–5.
159. Oder W, Prayer L, Grimm G, et al. Wilson’s disease: evidence of subgroups derived from clinical findings and brain lesions. Nature 1993;43:120–4.
160. Starosta-Rubinstein S, Young A, Kluin K, et al. Clinical assessment of 31 patients with Wilson’s disease. Correlations with structural changes on magnetic resonance imaging. Arch Neurol 1987;44:365–70.
161. Park RHR, McCabe P, Fell GS, et al. Wilson’s disease in Scotland. Gut 1991;32:1541–5.
162. Walshe JM, Gibbs KR. Brain copper in Wilson’s disease. Lancet 1987;2:1030.
163. Medalia A, Isaacs-Glaberman K, Scheinberg IH. Neuropsychological impairment in Wilson’s disease. Arch Neurol 1988; 45:502–4.
164. Dening TR, Berrios GE, Walshe JM. Wilson’s disease and epilepsy. Brain 1988;111:1139–55.
165. Goldstein NP, Ewert JC, Randall RV, et al. Psychiatric aspects of Wilson’s disease (hepatolenticular degeneration): results of psychometric tests during long term therapy. Am J Psychiatry 1968;124:1555–61.
166. Scheinberg IH, Sternlieb I, Richman J. Psychiatric manifestations in patients with Wilson’s disease. Birth Defects (Original Article Series) 1968;4:85.
167. Dening TR, Berrios GE. Wilson’s disease: clinical groups in 400 cases. Acta Neurol Scand 1989;80:527–34.
168. Uzman LL, Denny-Brown D. Amino-aciduria in hepatolenticular degeneration (Wilson’s disease). Am JMed Sci 1948;215:599.
169. Beam AG, Tu TF, Gutman AB. Renal function in Wilson’s disease. J Clin Invest 1957;36:1107.
170. Leu M-L, Strickland GT, Gutman RA. Renal function in Wilson’s disease: response to penicillamine therapy. Am J Med Sci 1970;260:381–98.
171. Fulop M, Sternlieb I, Scheinberg IH. Defective urinary acidification in Wilson’s disease. Ann Intern Med 1968;68: 770–7.
172. Wiebers DO, Wilson DM, Mc Leod RA, et al. Renal stones in Wilson’s disease. Am J Med 1979;67:249–54.
173. Wilson DM, Goldstein NP. Bicarbonate excretion in Wilson’s disease (hepatolenticular degeneration). Mayo Clin Proc 1974; 49:394–400.
174. Walshe JM. Effect of penicillamine on failure of renal acidification in Wilson’s disease. Lancet 1968;1:775–8.
175. Adams DA, Goldman R, Maxwell MH, et al. Nephrotic syndrome associated with penicillamine therapy of Wilson’s disease. Am J Med 1964;36:330–6.
176. Sternlieb I, Bennett B, Scheinberg IH. D-penicillamine induced Goodpasture’s syndrome in Wilson’s disease. Ann Intern Med 1975;82:673–6.
177. Mc Intyre N, Clink HM, Levi AG, et al. Hemolytic anemia in Wilson’s disease. N Engl J Med 1967;276:439.
178. Iser JH, Stevens BJ, Stening GF, et al. Hemolytic anemia of Wilson’s disease. Gastroenterology 1974;67:290–3.
179. Deiss A, Lee GR, Cartwright GE. Hemolytic anemia in Wilson’s disease. Ann Intern Med 1970;73:413–18.
180. Forman SJ, Kumar KS, Redeker AG, et al. Hemolytic anemia in Wilson’s disease: clinical findings and biochemicalmechanisms. Am J Hematol 1980;9:269–75.
181. Owen CA Jr, Goldstein NP, Bowie EJ. Platelet function and coagulation in patients with Wilson’s disease. Arch Intern Med 1976;136:148–52.
182. Hoagland HC, Goldstein NP. Hematologic (cytopenic) manifestations of Wilson’s disease (hepatolenticular degeneration). Mayo Clin Proc 1978;53:498.
183. Factor SM, Cho S, Sternlieb I, et al. The cardiomyopathy of Wilson’s disease. Myocardial alterations in nine cases. Virchows Arch [A] 1982;397:301–11.
184. Kuan P. Cardiac Wilson’s disease. Chest 1987;91:579–83.
185. Walshe JM. Wilson’s disease. The presenting symptoms. Arch Dis Child 1962;37:253–6.
186. Mindelzun R, Elkin M, Scheinberg IH, et al. Skeletal changes in Wilson’s disease: a radiological study. Radiology 1970;94:127–32.
187. Feller ER, Schumacher BR. Osteoarticular changes in Wilson’s disease. Arthritis Rheum 1972;15:259–66.
188. Golding DN, Walshe JM. Arthropathy of Wilson’s disease. Study of clinical and radiological features in 32 patients. Ann Rheum Dis 1977;36:99–111.
189. Menerey KA, Eider W, Brewer GJ, et al. The arthropathy of Wilson’s disease: clinical and pathologic features. J Rheumatol 1988;15:331–7.
190. Yu-Zhang X, Xue-Zhe Z, Xian-Hao X, et al. Radiologic study of 42 cases of Wilson’s disease. Skel Radiol 1985;13:114–19.
191. Leu ML, Strickland T, Wang CC, et al. Skin pigmentation in Wilson’s disease. JAMA 1970;211:1542–3.
192. Bearn AG, Mc Kusick VA. Azure lunale. Anunusual change in the fingernails in two patients with hepatolenticular degeneration (Wilson’s disease). JAMA 1958;166:904–6.
193. Kaushansky A, Frydman M, Kaufman H, et al. Endocrine studies of the ovulatory disturbances in Wilson’s disease (hepatolenticular degeneration). Fertil Steril 1987;47:270–3.
194. Frydman M, Kauschansky A, Bonne-Tamir B, et al. Assessment of the hypothalamic-pituitary-testicular function in male patients with Wilson’s disease. J Androl 1991;12:180–4.
195. Johansen K, Gregersen G. Glucose intolerance in Wilson’s disease. Normalization after treatment with penicillamine. Arch Intern Med 1972;129:587–90.
196. Sulochana G, Viswanathan J. Wilson’s disease with associated diabetes mellitus presenting as renal tubular acidosis. J Assoc Phys India 1982;30:405–7.
197. Lankisch G, Kaboth U, Koop H. Involvement of the exocrine pancreas in Wilson’s disease? Klin Wochenschr 1978;56:969.
198. Carpenter TO, Cames DL, Anast CS. Hypoparathyroidism in Wilson’s disease. N Engl J Med 1983;309:873–7.
199. McCullough AJ, Fleming CR, Thistle JL, et al. Diagnosis of Wilson’s disease presenting as fulminant hepatic failure. Gastroenterology 1983;84:161–7.
200. Berman DH, Leventhal RI, Gavaler JS, et al. Clinical differentiation of fulminant Wilsonian hepatitis from other causes of hepatic failure. Gastroenterology 1991;100:1129–34.
201. Shaver WA, Bhatt H, Combes B. Low serum alkaline phosphatase activity in Wilson’s disease. Hepatology 1986;6:859–63.
202. Willson RA, Clayson KJ, Leon S. Unmeasurable serum alkaline phosphatase activity in Wilson’s disease associated with fulminant hepatic failure and hemolysis. Hepatology 1987;7:613–18.
203. Ogihara H, Ogihara T, Miki M, et al. Plasma copper and antioxidant status in Wilson’s disease. Pediatr Res 1995;37:219–26.
204. Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139–42.
205. Edwards CQ, Williams DM, Cartwright GE. Hereditary hypoceruloplasminemia. Clin Genet 1979;15:311–16.
206. Da Costa CM, Baldwin D, Portmann B, et al. Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson’s disease. Hepatology 1992;15:609–15.
207. Frommer DJ. Urinary copper excretion and hepatic copper concentrations in liver disease. Digestion 1981;21:169–78.
208. Sanchez-Albisua I, Garde T, Hierro L, et al. A high index of suspicion: the key to an early diagnosis of Wilson’s disease in childrenood. J Pediatr Gastroenterol Nutr 1999;28:186–90.
209. Roberts EA, Schilsky ML. A practice guideline on Wilson disease. Hepatology 2003;37:1475–92.
210. Martins da Costa C, Baldwin D, Protmann B, et al. Value of urinary copper excretion afrter penicillamine challenge in the diagnosis of Wilson’s disease. Hepatology 1991;15:609–15.
211. Gregorio GV, Mieli-Vergani G. Urinary copper excretion after penicillamine challenge in children with prolonged hepatitis A infection. Hepatology 1993;18:706–7.
212. Sternlieb I. Diagnosis of Wilson’s disease. Gastroenterology 1978;74:787–9.
213. Matsuda I, Pearson T, Holtzman NA. Determination of apoceruloplasmin by radioimmunoassay in nutritional copper deficiency, Menkes’ kinky hair syndromes, Wilson’s disease and umbilical cord blood. Pediatr Res 1976;8:821–4.
214. Smallwood RA, Williams HA, Rosenoer VM et al. Liver copper levels in liver disease: studies using neutron activation analysis. Lancet 1968;2:1310–13.
215. Ferenci P, Steindl-Munda P, Vogel W, et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson’s disease. Clin Gastroenterol Hepatol. 2005;3:811–18.
216. Sternlieb I, Scheinberg IH. The role of radiocopper in the diagnosis of Wilson’s disease. Gastroenterology 1979;77:138–42.
217. Sternlieb I, Morell AG, Bauer CD, et al. Detection of the heterozygous carrier of the Wilson’s disease gene. J Clin Invest 1961;40:707–15.
218. Cossu P, Pirastu M, Nucaro A, et al. Prenatal diagnosis of Wilson’s disease by analysis of DNA polymorphisms. N Engl J Med 1992;327:57.
219. Sternlieb I. The outlook for the diagnosis of Wilson’s disease. J Hepatol 1993;17:263–4.
220. Gollan JL, Gollan TJ. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol 1998;28:28–36.
221. Dixon AK, Walshe JM. Computed tomography of the liver in Wilson’s disease. J Comput Assist Tomogr 1984;8:46–9.
222. Smevik B, Ritland S, Nilsen T, et al. Liver attenuation values at computed tomography related to liver copper content. Scand J Gastroenterol 1982;17:461–3.
223. Lawler GA, Pennock JM, Steiner RE, et al. Nuclear magnetic resonance (NMR) imaging in Wilson’s disease. J Comput Assist Tomogr 1983;7:1–8.
224. Frommer DJ. Direct measurement of serumnon-ceruloplasmin copper in liver disease. Clin Chim Acta 1976;68:303–7.
225. Schaffner F, Sternlieb I, Barka T, et al. Hepatocellular changes in Wilson’s disease. Histochemical and electron microscopic studies. Am J Pathol 1962;41:315–28.
226. Anderson PJ, Popper H. Changes in hepatic structure in Wilson’s disease. Am J Pathol 1960;36:483–97.
227. Scheinberg IH, Sternlieb I. The liver in Wilson’s disease. Gastroenterology 1959;37:550–64.
228. Johnson RC, De Ford JW, Gebhart RJ. Chronic active hepatitis and cirrhosis in Wilson’s disease. South Med J 1977;70:753–4.
229. Sternlieb I. The development of cirrhosis in Wilson’s disease. Clin Gastroenterol 1975;4:367–79.
230. Stromeyer FW, Ishak HG. Histology of the liver in Wilson’s disease. A study of 34 cases. Am J Clin Pathol 1980;73:12–24.
231. Kamakura K, Kimura S, Igarashi S, et al. A case of Wilson’s disease with hepatoma. J Jpn Soc Intern Med 1975;64:232–8.
232. Buffet C, Servent L, Pelletier G, et al. Hepatocellular carcinoma in Wilson’s disease. Gastroenterol Clin Biol 1984;8:681–2.
233. Guan R, Oon Cj, Wong PK, et al. Primary hepatocellular carcinoma associated with Wilson’s disease in a young woman. Postgrad Med J 1985;61:357–9.
234. Wilkinson ML, Portmann B, Williams R. Wilson’s disease and hepatocellular carcinoma: possible protective role of copper. Gut 1983;24:767–71.
235. Salaspuro M, Sipponen P. Demonstration of an intracellular copper-binding protein by orcein staining in long-standing cholestatic liver diseases. Gut 1976;17:787–90.
236. Evans J, Newman SP, Sherlock S. Observations on copperassociated protein in childhood liver disease. Gut 1980;21: 970–6.
237. Jain S, Scheuer PJ, Archer B, et al. Histological demonstration of copper and copper-associated protein in chronic liver disease. J Clin Pathol 1978;31:784–90.
238. Goldfischer S, Popper H, Sternlieb I. The significance of variations in the distribution of copper in liver disease. Am J Pathol 1980;99:715–30.
239. Guarascio P, Yentis F, Cevikbas U. Value of copper-associated protein in diagnostic assessment of liver biopsy. J Clin Pathol 1983;36:18–23.
240. Nartey NO, Frei JV, Cherian MG. Hepatic copper and metallothionein distribution in Wilson’s disease (hepatolenticular degeneration). Lab Invest 1987;57:397–401.
241. Sternlieb I. Characterization of the ultrastructural. Changes of hepatocytes in Wilson’s disease. Birth Defects (Original Article Series) 1968;4:92.
242. Sternlieb I, Feldmann G. Effects of anticopper therapy on hepatocellular mitochondria in patients with Wilson’s disease. An ultrastructural and stereological study. Gastroenterology 1976;71:457–61.
243. 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 1968;53: 883–901.
244. Williams FJB, Walshe JM. Wilson’s disease. An analysis of the cranial computerized tomographic appearances found in 60 patients and the changes in response to treatmentwith chelating agents. Brain 1981;104:735–52.
245. Harik SI, Donovan Post MJ. Computed tomography in Wilson’s disease. Neurology 1981;31:107–10.
246. Aisen AM, Martel W, Gabrielsen TO, et al. Wilson disease of the brain: MR imaging. Radiology 1985;157:137–41.
247. Linne T, Agartz I, Saaf J, et al. Cerebral abnormalities in Wilson’s disease as evaluated by ultra-low-field magnetic resonance imaging and computerized image processing. Magn Reson Imaging 1990;8:819–24.
248. Schwarz J, Antonini A, Kraft E, et al. Treatment with Dpenicillamine improves dopamine D2-receptor binding and T2- signal intensity in de novo Wilson’s disease. Neurology 1994;44: 1079–82.
249. Kuwert T, Hefter H, Scholz D, et al. Regional cerebral glucose consumption measured by positron emission tomography in patients with Wilson’s disease. Eur J Nucl Med 1992;19:96–101.
250. Snow BJ, Bhatt M, Martin WRW, et al. The nigrostriatal dopaminergic pathway in Wilson’s disease with positron emission tomography. J Neurol Neurosurg Psychiatry 1991;54:12–17.
251. Fujita M, Hosoki M, Miyazaki M. Brainstem auditory evoked responses in spinocerebellar degeneration and Wilson’s disease. Ann Neurol 1981;9:42–7.
252. Roach ES, Ford CS, Spudis EV, et al. Wilson’s disease: evoked potentials and computed tomography. J Neurol 1985;232:20–3.
253. Grimm G, Oder W, Prayer L, et al. Evoked potentials in assessment and follow-up of patients with Wilson’s disease. Lancet 1990;336:963–4.
254. Chu NS. Sensory evoked potentials in Wilson’s disease. Brain 1986;109:491–507.
255. Kattamis CA, Tjortjatou F. The hemolytic process of viral hepatitis in children with normal or deficient glucose-6- phosphate dehydrogenase activity. J Pediatr 1970;77:422–30.
256. Sallie R, Katsiyiannakis L, Baldwin D, et al. Failure of simple biochemical indices to reliably differentiate fulminant Wilson’s disease from other causes of fulminant hepatic failure. Hepatology 1992;16:1206–11.
257. Bennan DH, Leventhal RI, Kiss J, et al. Plasmapheresis in the management of fulminant Wilson’s disease. Gastroenterology 1989;96:A577.
258. Rakela J, Kurtz SB, McCarthy JT, et al. Fulminant Wilson’s disease treated with post-dilution hemofiltration and orthotopic liver transplantation. Gastroenterology 1986;90:2004–7.
259. Emre S, Atillasoy EQ, Ozdemir S, et al. Orthotopic liver transplantation for Wilsons disease: a single-center experience. Transplantation 2001;72:1232–6.
260. Schilsky ML. Diagnosis and treatment of Wilson’s disease. Pediatr Transplant 2002;6:15–19.
261. Underwood EJ. Trace elements in human and animal nutrition. New York: Academic, 1971:57.
262. Brewer GJ, Askari F, Lorincz MT, et al. 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 2006;63:521–7.
263. Scheinberg IH, Sternlieb I, Schilsky M, et al. Penicillamine may detoxify copper in Wilson’s disease. Lancet 1987;2:95.
264. Heilmaier HE, Jiang JL, Griem H, et al. D-penicillamine induces rat hepatic metallothionein. Toxicology 1986;42:23–31.
265. Brewer GJ, Terry CA, Aisen AM, Hill GM. Worsening of neurologic syndrome in patients with Wilson’s disease with initial penicillamine therapy. Arch Neurol 1987;44:490–3.
266. Walshe JM, Yealland M. Chelation treatment of neurological Wilson’s disease. Q J Med 1993;86:197–204.
267. Marsden CD. Wilson’s disease. Q J Med 1987;65:959–66.
268. Pall HS, Williams AC, Blake DR. Deterioration of Wilson’s disease following the start of penicillamine therapy [letter]. Arch Neurol 1989;46:359–61.
269. Saito H, Watanabe K, Sahara M, et al. Triethylene-tetramine (Trien) therapy for Wilson’s disease. Tohoku J Exp Med 1991; 164:29.
270. Walshe JM. Thiomolybdates in the treatment of Wilson’s disease. Arch Neurol 1992;49:132–3.
271. Lang CJG, Rabas-Kolominsky P, Engelhart A, et al. Fatal deterioration of Wilson’s disease after institution of oral zinc therapy. Arch Neurol 1993;50:1007.
272. Grand RJ, Vawter GF. Juvenile Wilson’s disease: histologic and functional studies during penicillamine therapy. J Pediatr 1975;87:1161–70.
273. Marecek Z, Heyrovsky A, Volek V. The effect of long termtreatment with penicillamine on the copper content in the liver in patients with Wilson’s disease. Acta Hepatol Gastroenterol 1975;22:292–6.
274. Sternlieb I, Scheinberg IH. Penicillamine therapy in hepatolenticular degeneration. JAMA 1964;189:748–54.
275. Walshe JM. Penicillamine and the SLE syndrome. J Rheumatol 1981;8(suppl 7):155–60.
276. Sternlieb I, Fischer M, Scheinberg IH. Penicillamine-induced skin lesions. J Rheumatol 1981;8(suppl 7):149–54.
277. Pass F, Goldfischer S, Sternlieb I, et al. Elastosis perforans serpiginosa during penicillamine therapy for Wilson’s disease. Arch Dermatol 1973;108:713–15.
278. Miyagawa S, Yoshioka A, Hatoko M, et al. Systemic sclerosislike lesions during long-termpenicillamine therapy for Wilson’s disease. Br J Dermatol 1987;116:95–100.
279. Eisenberg E, Ballow M, Wolfe SH, et al. Pemphigus-likemucosal lesions: a side effect of penicillamine therapy. Oral Surg Oral Med Oral Pathol 1981;51:409–14.
280. Menara M, Aancan L. Penicillamine hepatotoxicity in the treatment of Wilson’s disease. J Pediatr Gastroenterol Nutr 1992;14: 353.
281. Dubois RS, Rodgerson DO, Hambidge KM. Treatment of Wilson’s disease with triethylene tetramine hydrochloride (Trientine). J Pediatr Gastroenterol Nutr 1990;10:77–81.
282. Brewer GJ. Recognition, diagnosis, and management of Wilson’s disease. Proc Soc Exp Biol Med. 2000;223:30–46.
283. Brewer GJ, Johnson V, Dick RD, et al. Treatment of Wilson’s disease with ammonium tetrathiomolybdate. II. Initial therapy in 33 neurologically affected patients and follow up with zinc therapy. Arch Neurol 1996;53:1017–25.
284. Mason J. The biochemical pathogenesis of molybdenuminduced copper deficiency syndromes in ruminants: towards the final chapter. Ir Vet J 1990;43:18–21.
285. Mills CF, El-Gallad TT, Bremmer I. Effects of molybdate, sulphide and tetrathiomolybdate on copper metabolism in rats. J Inorg Biochem 1981;14:189–207.
286. Bremner I Mills CF, Young BW. Copper metabolism in rats given di or trithiomolybdates. J Inorg Biochem 182;16:109–19.
287. Mills CF, El Gallad TT, Bremner IWeham G. Copper and molybdenumabsorptionby rats givenammoniumtetrahiomolybdate. J Inorg Biochem 1981;14:163–75.
288. Gooneratne SR, Howell JM, Gawthorne JM. An investigation of the effects of intravenous administration of thiomolybdate on copper metabolism in chronic Cu-poisoned sheep. Br JNutr 181;46:469–80.
289. Brewer GJ, Hedera P, Kluin KJ, et al. Treatment of Wilson disease with ammoniumtetrathiomolybdate. III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy. Arch Neurol 2003;60:379–85.
290. Lipsky MA, Gollan JL. Treatment of Wilson’s disease: in Dpenicillamine we trust –what about zinc? Hepatology 1987; 7:593–5.
291. Hoogenraad TU, Koevoet R, de Ruyter Korvr EG. Oral zinc sulphate as long-term treatment in Wilson’s disease (hepatolenticular degeneration). Eur Neurol 1979;18:205–11.
292. Brewer GJ, Hill GM, Prasad AS, et al. Oral zinc therapy for Wilson’s disease. Ann Intern Med 1983;99:314–19.
293. Van Caillie-Bertrand M, Degenhart HJ, Visser HKA, et al. Oral zinc sulphate for Wilson’s disease. Arch Dis Child 1985;60: 656–9.
294. Hill GM, Brewer GJ, Prasad AS, et al. Treatment of Wilson’s disease with zinc: 1. Oral zinc therapy regimens. Hepatology 1987;7:522–8.
295. Hoogenraad TU, Van Hattum J, Van den Hamer CJA. Management of Wilson’s disease with zinc sulphate. Experience in a series of 27 patients. J Neurol Sci 1987;77:137–46.
296. Rossaro L, Sturniolo GC, Giacon G, et al. Zinc therapy in Wilson’s disease: observations in five patients. Am J Gastroenterol 1990;85:665–8.
297. Roberts EA, Cox DW. Wilson’s disease. Baillieres Clin Gastroenterol 1998;12:237–356.
298. Sokol RJ, Mc Kim JM Jr, Devereaux MW. Alpha-tocopherol ameliorates oxidant injury in isolated copper overload rat hepatocytes. Pediatr Res 1996;39:259–63.
299. Zeid I, Perrault J, Cox D, et al. Vitamin E in the treatment of Wilson’s disease. J Pediatr Gastroenterol Nutr 1996;26:345.
300. Schilsky ML, Scheinberg IH, Sternlieb I. Liver transplantation for Wilson’s disease: indications and outcome. Hepatology 1994;19:583–7.
301. Mason AL, Marsh W, Alpers DH. Intractable neurologic Wilson’s disease treatment with orthotopic liver transplantation. Dig Dis Sci 1993;38:1746.
302. Eghtesad B, Nezakatgoo N, Geraci LC, et al. Liver transplantation for Wilson’s disease: a single-center experience. Liver Transpl Surg 1999;5:467–74.
303. Asonuma K, Inomata Y, Kasahara M, et al. Living related liver transplantation from heterozygote genetic carriers to children with Wilson’s disease. Pediatr Transplant 1999;3:201–5.
304. Nazer H, Ede RJ, Mowat AP, et al. Wilson’s disease: clinical presentation and use of prognostic index. Gut 1986;27: 1377–81.
305. Dhawan A, Taylor RM, Cheeseman P, et al. Wilson’s disease in children: 37-year experience and revised King’s score for liver transplantation. Liver Transpl 2005;11:441–8.
306. Cossack ZT. The efficacy of oral zinc therapy as an alternative to penicillamine for Wilson’s disease [letter]. N Engl J Med 1988; 318:322–3.
307. Chin RKH. Pregnancy and Wilson’s disease [letter]. Am JObstet Gynecol 1991;165:488.
308. Sternlieb I. Wilson’s disease and pregnancy. Hepatology 2000; 31:531–2.
309. Linares A, Zarranz JJ, Rodriguez-Alacron J, et al. Reversible cutis laxa due to maternal penicillamine treatment. Lancet 1979;2:43.
310. Yarze JC, Martin P, Munoz SJ, et al. Wilson’s disease: current status. Am J Med 1992;92:643–54.
311. Mjolnerod IK, Rasmussen K, Dormnerud SA, et al. Congenital connective tissue defect probably due to d-penicillamine treatment in pregnancy. Lancet 1971;1:673–6.
312. Brewer GJ, Johnson VD, Dick RD, et al. Treatment of Wilson’s disease with zinc XVII: treatment during pregnancy. Hepatology 2000;31:364–70.
313. Walshe JM. Themanagementofpregnancies in Wilson’s disease. Q J Med 1986;58:81–7.
314. Scheinberg IH, Sternlieb I. Pregnancy in penicillamine-treated patients with Wilson’s disease. N Engl J Med 1975;293:1300–2.
315. Morris JJ, Seifter E, Rettura G, et al. Effect of penicillamine upon wound healing. J Surg Res 1969;9:142–9.
316. Tanner MS, Portmann B, Mowat AP, et al. Increased hepatic copper concentration in Indian childhood cirrhosis. Lancet 1979;1:1203–5.
317. Tanner MS. Role of copper in Indian childhood cirrhosis. Am J Clin Nutr 1998;67(suppl):1074–81.
318. Müller T, Feichtinger H, Berger H, et al. Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder. Lancet 1996;347:877–80.
319. Mowat AT. Liver disorders inchildhood. London:Butterworths, 1987:294–7.
320. Nayak NC, Ramalingaswammi V. Indian childhood cirrhosis. Clin Gastroenterol 1975;4:333–49.
321. O’Neill NC, Tanner MS. Uptake of copper from brass vessels by bovine milk and its relevance to Indian childhood cirrhosis. J Pediatr Gastroenterol Nutr 1989;9:167–72.
322. Bhave SA, Pandit AN, Tanner MS. Comparison of feeding history of children with Indian childhood cirrhosis and paired controls. J Pediatr Gastroenterol Nutr 1987;6:562–7.
323. Tanner MS, Kantarjian AH, Bhave SA, et al. Early introduction of copper-contaminated animal milk feeds as a possible cause of Indian childhood cirrhosis. Lancet 1983;2:992–5.
324. Sethi S, Grover S, Khodaskar MB. Role of copper in Indian childhood cirrhosis. Ann Trop Paediatr 1993;13:3–5.
325. Adelson JW. Indian childhood cirrhosis is a result of copper hepatotoxicity –in all likelihood. J Pediatr Gastroenterol Nutr 1987;6:491–2.
326. Kalra V. Dietary copper and Indian childhood cirrhosis. Ind Pediatr 1986;23:399–401.
327. Wijmenga C, Muller T, Murli IS, et al. Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson’s disease. Eur J Hum Genet 1998;6:624–8.
328. Hahn SH, Brantly ML, Oliver C, et al. Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts. Pediatr Res 1994;35:197–204.
329. Hahn SH, Tanner MS, Danks DM, et al. Normalmetallothionein synthesis in fibroblasts obtained from children with Indian childhood cirrhosis or copper-associated childhood cirrhosis. Biochem Mol Med 1995;54:142–5.
330. Kapoor SK, Singh M, Ghai OP. Study of serum copper and copper oxidase in patients with Indian childhood cirrhosis. Ind J Med Res 1971;59:115–21.
331. Bhave SA, Pandit AN, Pradhan AM, et al. Liver disease in India. Arch Dis Child 1982;57:922.
332. Popper H, Goldfischer S, Sternlieb I, et al. Cytoplasmic copper and its toxic effects. Studies in Indian childhood cirrhosis. Lancet 1979;1:1205–8.
333. Roy S, Ramalingaswami V, Nayak NC. An ultrastructural study of the liver in Indian childhood cirrhosis with particular reference to the structure of cytoplasmic hyaline. Gut 1971;12:693–701.
334. Bhagwat AG, Walia BNS, Koshy A, et al. Will the real Indian childhood cirrhosis please stand up? Cleve Clin Q 1983;50:323–37.
335. Arora NK, Nanda SK, Gulati S, et al. Acute viral hepatitis types E, A and B singly and in combination in acute liver failure in children in North India. J Med Virol 1996;48:215–21.
336. Suryanarayan Rao K, Madhavan TV, Tulpule PG. Incidence of toxigenic strains of Aspergillus flavus affecting ground nut crop in certain coastal districts of India. Ind JMed Res 1965;53:1196–201.
337. Amla I, Kamala C, Gopalakrishna GS, et al. Cirrhosis in children from peanut meal contaminated by alfatoxin. Am J Clin Nutr 1971;24:609–14.
338. Tanner MS, Mattocks AR. Hypothesis: plant and fungal biocides, copper and Indian childhood cirrhosis. Ann Trop Paediatr 1987;7:264–9.
339. Howell JM, Deol HS, Thomas JB, et al. Experimental copper and heliotrope intoxication in sheep: morphological changes. J Comp Pathol 1991;105:49–74.
340. Aston NS, Morris PA, Tanner MS. Retrorsine exacerbates liver damage from copper ingestion in neonatal rats [abstract]. Z Gastroenterol 1995;33:473.
341. Bras G, Jelliffe DB, Stuart KL. Veno-occlusive disease of the liver with non-portal type of cirrhosis occurring in Jamaica. Arch Pathol 1954;57:285–300.
342. Tanner MS, Bhave SA, Pradham AM, et al. Clinical trials of penicillamine in Indian childhood cirrhosis. Arch Dis Child 1987;62:1118–24.
343. Bhusnurmath SR, Walia BN, Singh S, et al. Sequential histopathologic alterations in Indian childhood cirrhosis treated with d-penicillamine. Hum Pathol 1991;22:653–8.
344. Pradhan AM, Bhave AM, Joshi VV, et al. Reversal of Indian childhood cirrhosis by d-penicillamine. J Pediatr Gastroenterol Nutr 1995;20:28–35.
345. Bavdekar AR, Bhave SA, Pradhan AM, et al. Long term survival in Indian childhood cirrhosis treatedwith d-penicillamine. Arch Dis Child 1996;74:32–5.
346. Bhave SA, Pandit AN, Singh S, et al. The prevention of Indian childhood cirrhosis. Ann Trop Paediatr 1992;12:23–30.
347. Superina RA, Pearl RH, Roberts EA, et al. Liver transplantation in children: the initial Toronto experience. J Pediatr Surg 1989;24:1013–19.
348. Müller-Höcker J, Weiss M, Meyer U, et al. Fatal copper storage disease of the liver in a German infant resembling Indian childhood cirrhosis. Virchows Arch 1987;411:379–85.
349. Walker-Smith JA, Blomfield J. Wilson’s disease or chronic copper poisoning? Arch Dis Child 1973;48:476–9.
350. Lefkowitch J, Honig CL, King M, et al. Hepatic copper overload and features of Indian childhood cirrhosis in an American sibship. N Engl J Med 1982;307:271–7.
351. Müller-Höcker J, Meyer U, Wiebecke B, et al. Copper storage disease of the liver and chronic dietary copper intoxication in two further German infants mimicking Indian childhood cirrhosis. Pathol Res Pract 1988;183:39–45.
352. Maggiore G, De Giacomo C, Sessa F, et al. Idiopathic hepatic copper toxicosis in a child. J Pediatr Gastroenterol Nutr 1987;6:980–3.
353. Bartok I, Szabo L, Horvath E, et al. Juvenile Zirrhose mit hochgradiger kupferspeicherung in der Leber. Acta Hepatosplenol 1971;18:119–28.
354. Weiss M, Müller-Höcker J, Wiebecke B, et al. First description of “Indian childhood cirrhosis” in a non-Indian infant in Europe. Acta Paediatr Scand 1989;78:152–6.
355. Adamson M, Reiner B, Olson JL, et al. Indian childhood cirrhosis in an American child. Gastroenterology 1992;102:1771–7.
356. Dubois RS, Giles G, Rodgerson DO, et al. Orthotopic liver transplantation for Wilson’s disease. Lancet 1991;1:505–8.
357. Aljajeh IA, Mughal S, Al-Tahou B, et al. Indian childhood cirrhosis-like liver disease in an Arab child. A brief report. Virchows Arch 1994;424:225–7.
358. Horslen SP, Tanner MS, Lyon TDB, et al. Copper associated childhood cirrhosis. Gut 1994;35:1497–500.
359. Baker A, Gormally S, Saxena R, et al. Copper-associated liver disease in childhood. J Hepatol 1995;23:538–43.
360. Ludwig J, Farr GH, Freese DK, et al. Chronic hepatitis and hepatic failure in a 14-year-old girl. Hepatology 1996;22: 1874–9.
361. Lim CT, Choo KE. Wilson’s disease in a 2 year old child. J Singapore Paediatr Soc 1979;21:99–102.
362. Bent S, Bohm K. Copper-induced liver cirrhosis in a 13-monthold boy. Gesundheitswesen 1995;57:667–9.
363. Valencia MP, Gamboa MJ, Mediana J. Copper overload and cirrhosis in four Mexican children [abstract]. Lab Invest 1993; 68:10P. 364.
364. Müller T, Feichtinger H, Berger H, et al. Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder. Lancet 1996;347:877–80.
365. Scheinberg IH, Sternlieb I. Wilson’s disease and idiopathic copper toxicosis. Am J Clin Nutr 1996;63(suppl):842–5.
366. Müller T, Müller W, Feichtinger H. Idiopathic copper toxicosis. Am J Clin Nutr 1998;67(suppl):1082–6.
367. Müllendahl KE, Lange H. Copper and childhood cirrhosis. Lancet 1994;344:1515–16.
368. Müller T, Schöfer H, Rodeck B, et al. Familial clustering of infantile cirrhosis in Northern Germany: a clue to the etiology of idiopathic copper toxicosis. J Pediatr 1999;135:189–96.
369. Scheinberg IH, Sternlieb I. Is non-Indian childhood cirrhosis caused by excess dietary copper. Lancet 1994;344:1002–4.
370. Giagheddu A, Demelia L, Puggioni G, et al. Epidemiologic study of hepatolenticular degeneration (Wilson’s disease) in Sardinia (1902–1983). Acta Neurol Scand 1985;72:43–55.
371. Dobyns WB, Goldstein NP, Gordon H. Clinical spectrum of Wilson’s disease (hepatolenticular degeneration). Mayo Clin Proc 1979;54:35–42.
372. Aksoy M, Erdem S. Wilson’s disease in Turkey, a review of 49 cases in 41 families. New Istanbul Contrib Clin Sci 1975;11: 92–7.