Wilson's disease

Handbook of Clinical Neurology

Volumn 100, Issue , 2011, Pages 681-709

  Pfeiffer, Ronald F ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BOOK; GENETICS; HISTORY; HUMAN; PHOTOGRAPHY; WILSON DISEASE;

HEPATOLENTICULAR DEGENERATION; HISTORY, 20TH CENTURY; HUMANS; PHOTOGRAPHY;

EID: 79954471805     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-52014-2.00049-5     Document Type: Book

References (362)

1. Aggarwal A., Aggarwal N., Nagral A., et al. A novel global assessment scale for Wilson's disease (GAS for WD). Mov Disord 2009, 24:509-518.
2. Akil M., Brewer G.J. Psychiatric and behavioral abnormalities in Wilson's disease. Adv Neurol 1995, 65:171-178.
3. Akil M., Schwartz J.A., Dutchak D., et al. The psychiatric presentations of Wilson's disease. J Neuropsychiatry Clin Neurosci 1991, 3:377-382.
4. Ala A., Borjigin J., Rochwarger A., et al. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology 2005, 41:668-670.
5. Alanen A., Komu M., Penttinen M., et al. Magnetic resonance imaging and proton MR spectroscopy in Wilson's disease. Br J Radiol 1999, 72:749-756.
6. Aldave A.J., King J.A., Kim B.T., et al. Corneal copper deposition associated with chronic lymphocytic leukemia. Am J Ophthalmol 2006, 142:174-176.
7. Azevedo E.M., Scaff M., Barbosa E.R., et al. Heart involvement in hepatolenticular degeneration. Acta Neurol Scand 1978, 58:296-303.
8. Bálint G., Szebenyi B. Hereditary disorders mimicking and/or causing premature osteoarthritis. Baillieres Best Pract Res Clin Rheumatol 2000, 14:219-250.
9. Barbosa E.R., Caramelli P., Bacheschi L.A., et al. Wilson's disease: magnetic resonance imaging (MRI) with clinical correlations in 16 cases. Rev Paul Med 1993, 111:407-411.
10. Barbosa E.R., Silveira-Moriyama L., Machado A.C., et al. Wilson's disease with myoclonus and white matter lesions. Parkinsonism Relat Disord 2007, 13:185-188.
11. Bartova P., Skoloudik D., Bar M., et al. Transcranial sonography in movement disorders. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2008, 152:251-258.
12. Basir A., Bougteba A., Kissani N. Torticollis révélant une maladie de Wilson. Arch Pediatr 2009, 16:402-404.
13. Bearn A.G. A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration). Ann Hum Genet 1960, 24:33-43.
14. Bearn A.G., Kunkel H.G. Biochemical abnormalities in Wilson's disease. J Clin Invest 1952, 31:616.
15. Bearn A.G., McKusick V.A. Azure lunulae: an unusual change in the fingernails in two patients with hepatolenticular degeneration (Wilson's disease). JAMA 1958, 166:904-906.
16. Bennett R.A., Harbilas E. Wilson's disease with aseptic meningitis and penicillamine-related cheilosis. Arch Intern Med 1967, 120:374-376.
17. Benson G.D. Hepatic copper accumulation in primary biliary cirrhosis. Yale J Biol Med 1979, 52:83-88.
18. Bhattacharya K., Velickovic M., Schilsky M., et al. Autonomic cardiovascular reflexes in Wilson's disease. Clin Auton Res 2002, 12:190-192.
19. Bigger J.F. Retinal hemorrhages during penicillamine therapy of cystinuria. Am J Ophthalmol 1968, 66:954-955.
20. Brewer G.J. Penicillamine should not be used as initial therapy in Wilson's disease. Mov Disord 1999, 14:551-554.
21. Brewer G.J. Wilson's Disease: A Clinician's Guide to Recognition, Diagnosis, and Management 2001, Kluwer, Boston.
22. Brewer G.J. Wilson's disease. Curr Treat Options Neurol 2004, 2:193-204.
23. Brewer G.J. Novel therapeutic approaches to the treatment of Wilson's disease. Expert Opin Pharmacother 2006, 7:317-324.
24. Brewer G.J. The use of copper-lowering therapy with tetrathiomolybdate in medicine. Expert Opin Investig Drugs 2009, 18:89-97.
25. Brewer G.J., Yuzbasiyan-Gurkan V. Wilson's disease. Textbook of Clinical Neuropharmacology and Therapeutics 1992, 191-205. Raven Press, New York. H.K. Klawans, C.G. Goetz, C.M. Tanner (Eds.).
26. Brewer G.J., Hill G.M., Prasad A.S., et al. Oral zinc therapy for Wilson's disease. Ann Intern Med 1983, 99:314-320.
27. Brewer G.J., Terry C.A., Aisen A.M., et al. Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol 1987, 44:490-493.
28. Brewer G.J., Dick R.D., Yuzbasiyan-Gurkan V., et al. Initial therapy of patients with Wilson's disease with 32tetrathiomolybdate. Arch Neurol 1991, 48:42-47.
29. Brewer G.J., Yuzbasiyan-Gurkan V., Lee D.-Y. Molecular genetics and zinc-copper interactions in human Wilson's disease and canine copper toxicosis. Essential and Toxic Trace Elements in Human Health and Disease: An Update 1992, 129-145. Wiley-Liss, New York. A.S. Prasad (Ed.).
30. Brewer G.J., Yuzbasiyan-Gurkan V., Dick R., et al. Does a vegetarian diet control Wilson's disease?. J Am Coll Nutr 1993, 12:527-530.
31. Brewer G.J., Dick R.D., Johnson V., et al. Treatment of Wilson's disease with ammonium tetrathiomolybdate. I. Initial therapy in 17 neurologically affected patients. Arch Neurol 1994, 51:545-554.
32. Brewer G.J., Turkay A., Yuzbasiyan-Gurkan V. Development of neurologic symptoms in a patient with asymptomatic Wilson's disease. Arch Neurol 1994, 51:304-305.
33. Brewer G.J., Johnson V., Dick R.D., et al. Treatment of Wilson disease with ammonium tetrathiomolybdate. II. Initial therapy in 33 neurologically affected patients and follow-up with zinc therapy. Arch Neurol 1996, 53:1017-1025.
34. Brewer G.J., Johnson V.D., Dick R.D., et al. Treatment of Wilson's disease with zinc XVII: treatment during pregnancy. Hepatology 2000, 31:364-370.
35. Brewer G.J., Dick R.D., Johnson V.D., et al. Treatment of Wilson's disease with zinc XVI: treatment during the pediatric years. J Lab Clin Med 2001, 137:191-198.
36. Bull P.C., Thomas G.R., Rommens J.M., et al. The Wilson gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993, 5:327-337.
37. Caca K., Ferenci P., Kühn H.J., et al. High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis. J Hepatol 2001, 35:575-581.
38. Cairns J.E., Williams H.P., Walshe J.M. " Sunflower cataract" in Wilson's disease. Br Med J 1969, 3:95-96.
39. Canelas H.M., Carvalho N., Scaff M., et al. Osteoarthropathy of hepatolenticular degeneration. Acta Neurol Scand 1978, 57:481-487.
40. Cartwright G.E. Diagnosis of treatable Wilson's disease. N Engl J Med 1978, 298:1347-1350.
41. Castilla-Higuero L., Romero-Gomez M., Suarez E., et al. Acute hepatitis after starting zinc therapy in a patient with presymptomatic Wilson's disease. Hepatology 2000, 32:877.
42. Chen C.L., Kuo Y.C. Metabolic effects of liver transplantation in Wilson's disease. Transplant Proc 1993, 25:2944-2947.
43. Cheng F., Li G.Q., Zhang F., et al. Outcomes of living-related liver transplantation for Wilson's disease: a single-center experience in China. Transplantation 2009, 87:751-757.
44. Chiu A., Tsoi N.S., Fan S.T. Use of the molecular adsorbents recirculating system as a treatment for acute decompensated Wilson disease. Liver Transpl 2008, 14:1512-1516.
45. Chu E.C., Chu N.U., Huang C.C. Autonomic involvement in Wilson's disease: a study of sympathetic skin response and RR interval variation. J Neurol Sci 1997, 149:131-137.
46. Chu N.-S., Hung T.-P. Geographic variations in Wilson's disease. J Neurol Sci 1993, 117:1-7.
47. Collins K.L., Roberts E.A., Adeli K., et al. Single pass albumin dialysis (SPAD) in fulminant Wilsonian liver failure: a case report. Pediatr Nephrol 2008, 23:1013-1016.
48. Condamine L., Hermine O., Alvin P., et al. Acquired sideroblastic anemia during treatment of Wilson's disease with triethylene tetramine dihydrochloride. Br J Hematol 1993, 83:166-168.
49. Corcos J.M., Soler-Bechara J., Mayer K., et al. Neutrophilic agranulocytosis during administration of penicillamine. JAMA 1964, 189:265-268.
50. da Costa Mdo D., Spitz M., Bacheschi L.A., et al. Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI. Neuroradiology 2009, 51:627-633.
51. Cumings J.N. The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration. Brain 1948, 71:410-415.
52. Czlonkowska A. Myasthenia syndrome during penicillamine treatment. Br Med J 1975, 2:726-727.
53. Czlonkowska A., Tarnacka B., Möller J.C., et al. Unified Wilson's Disease Rating Scale - a proposal for the neurological scoring of Wilson's disease patients. Neurol Neurochir Pol 2007, 41:1-12.
54. Czlonkowska A., Rodo M., Gromadzka G. Late onset Wilson's disease: therapeutic implications. Mov Disord 2008, 23:896-898.
55. Czlonkowska A., Gromadzka G., Chabik G. Monozygotic female twins discordant for phenotype of Wilson's disease. Mov Disord 2009, 24:1066-1069.
56. da Silva-Júnior F.P., Carrasco A.E.A.B., da Silva Mendes A.M., et al. Swallowing dysfunction in Wilson's disease: a scintigraphic study. Neurogastroenterol Motil 2008, 20:285-290.
57. Das S.K., Ray K. Wilson's disease: an update. Nat Clin Pract Neurol 2006, 2:482-493.
58. Dastur D.K., Manghani D.K., Wadia N.H. Wilson's disease in India: I. Geographic, genetic, and clinical aspects in 16 families. Neurology 1968, 18:21-31.
59. Davis E.J., Borde M. Wilson's disease and catatonia. Br J Psychiatry 1993, 162:256-259.
60. Day F.A., Panemangalore M., Brady F.O. In vivo and ex vivo effects of copper on rat liver metallothionein. Proc Soc Exp Biol Med 1981, 168:306-310.
61. Deiss A. Treatment of Wilson's disease. Ann Intern Med 1983, 99:398-399.
62. Dening T.R. Psychiatric aspects of Wilson's disease. Br J Psychiatry 1985, 147:677-682.
63. Dening T.R., Berrios G.E., Walshe J.M. Wilson disease and epilepsy. Brain 1988, 111:1139-1155.
64. Dening T.R., Berrios G.E. Wilson's disease. Psychiatric symptoms in 195 cases. Arch Gen Psychiatry 1989, 46:1126-1143.
65. DiDonato M., Narindrasorasak S., Forbes J.R., et al. Expression, purification, and metal binding properties of the N-terminal domain from the Wilson disease putative copper-transporting ATPase (ATP7B). J Biol Chem 1997, 272:33279-33282.
66. Dobyns W.B., Goldstein N.P., Gordon H. Clinical spectrum of Wilson's disease (hepatolenticular degeneration). Mayo Clin Proc 1979, 54:35-42.
67. Donfrid M., Jankovic G., Strahinja R., et al. Idiopathic thrombocytopenia associated with Wilson's disease. Hepatogastroenterology 1998, 45:1774-1776.
68. Ebadi M. Metallothionein and other zinc-binding proteins in brain. Methods Enzymol 1991, 205:363-387.
69. Ebadi M., Paliwal V.K., Takahashi T., et al. Zinc metallothionein in mammalian brain. UCLA Symp Mol Cell Biol 1989, 98:257-267.
70. Ebadi M., Pfeiffer R.F., Murrin L.C., et al. Metallothionein and oxidation reactions in Parkinson's disease. Proc West Pharmacol Soc 1991, 34:285-290.
71. Eisenberg E., Ballow M., Wolfe S.H., et al. Pemphigus-like mucosal lesions: a side effect of penicillamine therapy. Oral Surg Oral Med Oral Pathol 1981, 51:409-414.
72. Enomoto K., Ishibashi H., Irie K., et al. Fulminant hepatic failure without evidence of cirrhosis in a case of Wilson's disease. Jpn J Med 1989, 28:80-84.
73. Erkan T., Aktuglu C., Gulcan E.M., et al. Wilson disease manifested primarily as amenorrhea and accompanying thrombocytopenia. J Adolesc Health 2002, 31:378-380.
74. Evans J., Newman S., Sherlock S. Liver copper levels in intrahepatic cholestasis of childhood. Gastroenterology 1978, 75:875-878.
75. Ezzo J.A., Rowley J.F., Finnegan J.V. Hepatolenticular degeneration associated with acanthosis nigricans. AMA Arch Intern Med 1957, 100:827-832.
76. Factor S.M., Cho S., Sternlieb I., et al. The cardiomyopathy of Wilson's disease. Myocardial alterations in nine cases. Virchows Arch A Pathol Anat Histol 1982, 397:301-311.
77. Feller E.R., Schumacher H.R. Osteoarticular changes in Wilson's disease. Arthritis Rheum 1972, 15:259-266.
78. Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 2006, 120:151-159.
79. Ferenci P., Caca K., Loudianos G., et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003, 23:139-142.
80. 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, 3:811-818.
81. Firneisz G., Szalay F., Halasz P., et al. Hypersomnia in Wilson's disease: an unusual symptom in an unusual case. Acta Neurol Scand 2000, 101:286-288.
82. Fleischer B. Zwei weiterer Falle von grünlicher Verfärbung der Kornea. Klin Monatsbl Augenheilkd 1903, 41:489-491.
83. Fleischer B. Über eine der " Pseudosklerose" nahestehende, bisher unbekannte Krankheit (gekennzeichnet durch tremor, psychische storungen, braunliche Pigmentierung bestimmter gewebe, inbesondere auch der Hornhautperipherie, Lebercirrhose). Dtsch Z Nervenheilkd 1912, 44:179-201.
84. Fleming C.R., Dickson E.R., Wahner H.W., et al. Pigmented corneal rings in non-Wilsonian liver disease. Ann Intern Med 1977, 86:285-288.
85. Folhoffer A., Ferenci P., Csak T., et al. Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease. Eur J Gastroenterol Hepatol 2007, 19:105-111.
86. Forbes J.R., Cox D.W. Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet 2000, 9:1927-1935.
87. Foruny J.R., Boixeda D., López-Sanroman A., et al. Usefulness of penicillamine-stimulated urinary copper excretion in the diagnosis of adult Wilson's disease. Scand J Gastroenterol 2008, 43:597-603.
88. Fox A.N., Schilsky M. Once daily trientine for maintenance therapy of Wilson disease. Am J Gastroenterol 2008, 103:494-495.
89. Frerichs F.T. A Clinical Treatise on Diseases of the Liver 1860, The New Sydenham Society, London.
90. Frommer D.J. Defective biliary excretion of copper in Wilson's disease. Gut 1974, 15:125-129.
91. Frommer D.J. Urinary copper excretion and hepatic copper concentrations in liver disease. Digestion 1981, 21:169-178.
92. Frommer D., Morris J., Sherlock S., et al. Kayser-Fleischer-like rings in patients without Wilson's disease. Gastroenterology 1977, 72:1331-1335.
93. Frydman M., Bonné-Tamir B., Farrr L.A., et al. Assignment of the gene for Wilson's disease to chromosome 13. Proc Natl Acad Sci U S A 1985, 82:1819-1821.
94. Gaffney D., Fell G.S., O'Reilly D.S. ACP best practice no. 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring. J Clin Pathol 2000, 53:807-812.
95. Garmizo G., Frauens B.J. Corneal copper deposition secondary to oral contraceptives. Optom Vis Sci 2008, 85:E802-E807.
96. George G.N., Pickering I.J., Harris H.H., et al. Tetrathiomolybdate causes formation of hepatic copper-molybdenum clusters in an animal model of Wilson's disease. J Am Chem Soc 2003, 125:1704-1705.
97. Gibbs K.R., Walshe J.M. Interruption of the tryptophan-nicotinic acid pathway by penicillamine-induced pyridoxine deficiency in patients with Wilson's disease and in experimental animals. Ann N Y Acad Sci 1969, 166:158-169.
98. Gibbs K., Walshe J.M. A study of the caeruloplasmin concentrations found in 75 patients with Wilson's disease, their kinships and various control groups. Q J Med 1979, 48:447-463.
99. Gill R.Q., Sterling R.K. Acute liver failure. J Clin Gastroenterol 2001, 33:191-198.
100. Giorgio A.J., Cartwright G.E., Wintrobe M.M. Pseudo-Kayser-Fleischer rings. Arch Intern Med 1964, 113:817-818.
101. Glass J.D., Reich S.G., DeLong M.R. Wilson's disease. Development of neurological disease after beginning penicillamine therapy. Arch Neurol 1990, 47:595-596.
102. Golding D.N., Walshe J.M. Arthropathy of Wilson's disease: study of clinical and radiological features in 32 patients. Ann Rheum Dis 1977, 36:99-111.
103. Goldstein N.P., Ewert J.C., Randall R.V., et al. Psychiatric aspects of Wilson's disease (hepatolenticular degeneration): results of psychometric tests during long-term therapy. Am J Psychiatry 1968, 124:1555-1561.
104. Goodman S.I., Rodgerson D.O., Kaufman J. Hypercupremia in a patient with multiple myeloma. J Lab Clin Med 1967, 70:57-62.
105. Gowers W. A Manual of Diseases of the Nervous System 1888, J & A Churchill, London.
106. Gow P.J., Smallwood R.A., Angus P.W., et al. Diagnosis of Wilson's disease: an experience over three decades. Gut 2000, 46:415-419.
107. Gow P.J., Peacock S.E., Chapman R.W. Wilson's disease presenting with rapidly progressive visual loss: another neurologic manifestation of Wilson's disease?. J Gastroenterol Hepatol 2001, 16:699-701.
108. Grimm G., Madl C., Katzenschlager R., et al. Detailed evaluation of evoked potentials in Wilson's disease. Electroencephalogr Clin Neurophysiol 1992, 82:119-124.
109. Gulyas A.E., Salazar-Grueso E.F. Pharyngeal dysmotility in a patient with Wilson's disease. Dysphagia 1988, 2:230-234.
110. Haggstrom G., Hirschowitz B.I. Disordered esophageal motility in Wilson's disease. J Clin Gastroenterol 1980, 2:273-275.
111. Haggstrom G.C., Hirschowitz B.I., Flint A. Long-term penicillamine therapy for Wilson's disease. South Med J 1980, 73:530-531.
112. Ha-Hao D., Merle U., Hofmann C., et al. Chances and shortcomings of adenovirus-mediated ATP7B gene transfer in Wilson disease: proof of principle demonstrated in a pilot study with LEC rats. Z Gastroenterol 2002, 40:209-216.
113. Hall A.C., Young B.W., Bremner I. Intestinal metallothionein and the mutual antagonism between copper and zinc in the rat. J Inorg Biochem 1979, 11:57-66.
114. Hall H.C. La Dégénérescence Hépato-lenticulaire: Maladie de Wilson-Pseudosclérose 1921, Paul Masson, Paris.
115. Hartard C., Weisner B., Dieu C., et al. Wilson's disease with cerebral manifestation: monitoring therapy by CSF copper concentration. J Neurol 1993, 241:101-107.
116. Hawkins R.A., Mazziotta J.C., Phelps M.E., et al. Wilson's disease studied with FDG and positron emission tomography. Neurology 1987, 37:1707-1711.
117. Hefter H., Kuwert T., Herzog H., et al. Relationship between striatal glucose consumption and copper excretion in patients with Wilson's disease treated with d-penicillamine. J Neurol 1993, 241:49-53.
118. Hegedus D., Ferencz V., Lakatos P.L., et al. Decreased bone density, elevated serum osteoprotegerin, and beta-cross-laps in Wilson disease. J Bone Miner Res 1992, 17:1961-1967.
119. Hellman N.E., Gitlin J.D. Ceruloplasmin metabolism and function. Annu Rev Nutr 2002, 22:439-458.
120. Henkin R.I., Keiser H.R., Jafee I.A., et al. Decreased taste sensitivity after d-penicillamine reversed by copper administration. Lancet 1967, 2:1268-1271.
121. Hermann W., Barthel H., Hesse S., et al. Comparison of clinical types of Wilson's disease and glucose metabolism in extrapyramidal motor brain regions. J Neurol 2002, 249:896-901.
122. Herron B.E. Wilson's disease (hepatolenticular degeneration). Ophthalmic Semin 1976, 1:63-69.
123. Hirschman S.Z., Isselbacher K.J. The nephrotic syndrome as a complication of penicillamine therapy of hepatolenticular degeneration (Wilson's disease). Ann Intern Med 1965, 62:1297-1300.
124. Hitoshi S., Iwata M., Yoshikawa K. Mid-brain pathology of Wilson's disease: MRI analysis of three cases. J Neurol Neurosurg Psychiatry 1991, 54:624-626.
125. Holmberg C.G., Laurell C.B. Investigations in serum copper. II. Isolation of the copper containing protein and a description of some of its properties. Acta Chem Scand 1948, 2:550-556.
126. Homen E.A. Eine Eigenthümliche bei drei Geschwistern auftretende typische Krankheit unter der Form einer progressiven Dementia, in Verbindung mit ausgedehnten Gefässveränderungen (wohl lues hereditaria tarda). Arch Psychiatr 1892, XXIV:191-228.
127. Hoogenraad T. Wilson's Disease 1996, WB Saunders, London.
128. Hoogenraad T.U. Paradigm shift in treatment of Wilson's disease: zinc therapy now treatment of choice. Brain Dev 2006, 28:141-146.
129. Hooper P.L., Visconti L., Garry P.J., et al. Zinc lowers high-density lipoprotein-cholesterol levels. JAMA 1980, 244:1960-1961.
130. Hoppe B., Neuhaus T., Superti-Furga A., et al. Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease. Nephron 1993, 65:460-462.
131. Hoshino T., Kumasaka K., Kawano K., et al. Low serum alkaline phosphatase activity associated with severe Wilson's disease. Is the breakdown of alkaline phosphatase molecules caused by reactive oxygen species?. Clin Chim Acta 1995, 238:91-100.
132. Houwen R.H.J. Copper: two sides of the same coin. Neth J Med 2008, 66:325-326.
133. Huang C.C., Chu N.S. Wilson's disease: clinical analysis of 71 cases and comparison with previous Chinese series. J Formos Med Assoc 1992, 91:502-507.
134. Huang C.-C., Chu N.-S. Psychosis and epileptic seizures in Wilson's disease with predominantly white matter lesions in the frontal lobe. Parkinsonism Relat Disord 1995, 1:53-58.
135. Huo L.J., Liao R.D., Chen X.M. Ophthalmic manifestations of Wilson's disease. Zhonghua Yan Ke Za Zhi 2008, 44:128-130.
136. Hursitoglu M., Kara O., Cikrikcioglu M.A., et al. Clinical improvement of a patient with severe Wilson's disease after a single session of therapeutic plasma exchange. J Clin Apher 2009, 24:25-27.
137. Ingster-Moati I., Bui Quoc E., Pless M., et al. Ocular motility and Wilson's disease: a study on 34 patients. J Neurol Neurosurg Psychiatry 2007, 78:1199-1201.
138. Innes J.R., Strachan I.M., Triger D.R. Unilateral Kayser-Fleischer ring. Br J Ophthalmol 1986, 70:469-470.
139. Jayasundar R., Sahani A.K., Gaikwad S., et al. Proton MR spectroscopy of basal ganglia in Wilson's disease: case report and review of literature. Magn Reson Imaging 2002, 20:131-135.
140. Jha S.K., Behari M., Ahuja G.K. Wilson's disease: clinical and radiological features. J Assoc Physicians India 1998, 46:602-605.
141. Jhang J.S., Schilsky M.L., Lefkowitch J.H., et al. Therapeutic plasmapheresis as a bridge to liver transplantation in fulminant Wilson disease. J Clin Apher 2007, 22:10-14.
142. Johnson R.D., Campbell R.J. Wilson's disease: electron microscopic, X-ray energy spectroscopic and atomic absorption spectroscopic studies of corneal copper deposition and distribution. Lab Invest 1982, 46:546-569.
143. Jones R.J., Lewis S.J., Smith J.M., et al. Undetectable serum ceruloplasmin in a woman with chronic hepatitis C infection. J Hepatol 2000, 32:703-704.
144. Jukić I., Titlić M., Tonkić A., et al. Psychosis and Wilson's disease: a case report. Psychiatr Danub 2006, 18:105-107.
145. Kaduk B., Metze K., Schmidt P.F., et al. Secondary athrocytotic cardiomyopathy - heart damage due to Wilson's disease. Virchows Arch A Pathol Anat Histol 1980, 387:67-80.
146. Kaplinsky C., Sternlieb I., Javitt N., et al. Familial cholestatic cirrhosis associated with Kayser-Fleischer rings. Pediatrics 1980, 65:782-788.
147. Kaul A., McMahon D. Wilson's disease and offending behavior: a case report. Med Sci Law 1993, 33:353-358.
148. Kayser B. Über einen Fall von angeborener grünlicher Verfärbung der Kornea. Klin Monatsbl Augenheilkd 1902, 40:22-25.
149. Keane J.R. Lid-opening apraxia in Wilson's disease. J Clin Neuroophthalmol 1988, 8:31-33.
150. Kenngott S., Bilzer M. Inverse correlation of serum bilirubin and alkaline phosphatase in fulminant Wilson's disease. J Hepatol 1998, 29:683.
151. King A.D., Walshe J.M., Kendall B.E., et al. Cranial MR imaging in Wilson's disease. AJR Am J Roentgenol 1996, 167:1579-1584.
152. Kirsch N., Hukill P.B. Elastosis perforans serpiginosa by penicillamine. Electron microscopic observations. Arch Dermatol 1977, 113:630-635.
153. Kiss J.E., Berman D., Van Thiel D. Effective removal of copper by plasma exchange in fulminant Wilson's disease. Transfusion 1998, 38:327-331.
154. Knight E.M., Gilman S., Selwa L. Status epilepticus in Wilson's disease. Epileptic Disord 2009, 11:138-143.
155. Komatsu H., Fujisawa T., Inui A., et al. Hepatic copper concentration in children undergoing living related liver transplantation due to Wilsonian fulminant hepatic failure. Clin Transplant 2002, 16:227-232.
156. Korman J.D., Volenberg I., Balko J., et al. Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests. Hepatology 2008, 48:1167-1174.
157. Kramer U., Weinberger A., Yarom R., et al. Synovial copper deposition as a possible explanation of arthropathy in Wilson's disease. Bull Hosp Jt Dis 1993, 52:46-49.
158. Kreymann B., Seige M., Schweigart U., et al. Albumin dialysis: effective removal of copper in a patient with fulminant Wilson disease and successful bridging to liver transplantation: a new possibility for the elimination of protein-bound toxins. J Hepatol 1999, 31:1080-1085.
159. Kuan P. Cardiac Wilson's disease. Chest 1987, 91:579-583.
160. Kumar S. Severe autonomic dysfunction as a presenting feature of Wilson's disease. J Postgrad Med 2005, 51:75-76.
161. Kumar S., Thapa B., Kaur G., et al. Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity. Mol Cell Biochem 2007, 294:1-10.
162. Kuruvilla A., Joseph S. " Face of the giant panda" sign in Wilson's disease: revisited. Neurol India 2000, 48:395-396.
163. La Fontaine S., Theophilos M.B., Firth S.D., et al. Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase. Hum Mol Genet 2001, 10:361-370.
164. Lang C.J.G., Rabas-Kolominsky P., Engelhardt A., et al. Fatal deterioration of Wilson's disease after institution of oral zinc therapy. Arch Neurol 1993, 50:1007-1008.
165. LaRusso N.F., Summerskill W.H., McCall J.T. Abnormalities of chemical tests for copper metabolism in chronic active liver disease: differentiation from Wilson's disease. Gastroenterology 1976, 70:653-655.
166. Lau J.Y., Lai C.L., Wu P.C., et al. Wilson's disease: 35 years' experience. Q J Med 1990, 75:597-605.
167. Lauterbach E.C., Cummings J.L., Duffy J., et al. Neuropsychiatric correlates and treatment of lenticulostriatal diseases: a review of the literature and overview of research opportunities in Huntington's, Wilson's, and Fahr's diseases. J Neuropsychiatry Clin Neurosci 1998, 10:249-266.
168. Lech T., Hydzik P., Kosowski B. Significance of copper determination in late onset of Wilson's disease. Clin Toxicol (Phila) 2007, 45:688-694.
169. Lee J.J., Kim H.J., Chung I.J., et al. Acute hemolytic crisis with fulminant hepatic failure as the first manifestation of Wilson's disease: a case report. J Korean Med Sci 1998, 13:548-550.
170. Lee M.S., Kim Y.D., Lyoo C.H. Oculogyric crisis as an initial manifestation of Wilson's disease. Neurology 1999, 52:1714-1715.
171. Leinweber B., Möller J.C., Scherag A., et al. Evaluation of the Unified Wilson's Disease Rating Scale (UWDRS) in German patients with treated Wilson's disease. Mov Disord 2008, 23:54-62.
172. Lennox G., Jones R. Gaze distractibility in Wilson's disease. Ann Neurol 1989, 25:415-417.
173. Leśniak M., Czlonkowska A., Seniów J. Abnormal antisaccades and smooth pursuit eye movements in patients with Wilson's disease. Mov Disord 2008, 14:2067-2073.
174. Leu M.L., Strickland G.T., Wang C.C., et al. Skin pigmentation in Wilson's disease. JAMA 1970, 211:1542-1543.
175. Lewis R.A., Falls H.F., Troyer D.O. Ocular manifestations of hypercupremia associated with multiple myeloma. Arch Ophthalmol 1995, 93:1050-1053.
176. LeWitt P.A. Penicillamine as a controversial treatment for Wilson's disease. Mov Disord 1999, 14:555-556.
177. Liebeskind D.S., Wong S., Hamilton R.H. Faces of the giant panda and her cub: MRI correlates of Wilson's disease. J Neurol Neurosurg Psychiatry 2003, 74:682.
178. Litwin T., Gromadzka G., Czlonkowska A. Neurological presentation of Wilson's disease in a patient after liver transplantation. Mov Disord 2008, 23:743-746.
179. Lönnerdal B. Intestinal regulation of copper homeostasis: a developmental perspective. Am J Clin Nutr 2008, 88:846S-850S.
180. Loudianos G., Lovicu M., Dessi V., et al. Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. Hum Mutat 2002, 20:260-266.
181. Lutsenko S., Petrukhin K., Cooper M.J., et al. N-Terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat. J Biol Chem 1997, 272:18939-18944.
182. Luza S.C., Speisky H.C. Liver copper storage and transport during development: implications for cytotoxicity. Am J Clin Nutr 1996, 63:812S-820S.
183. Machado A., Chien H.F., Deguti M.M., et al. Neurological manifestations in Wilson's disease: report of 119 cases. Mov Disord 2006, 21:2192-2196.
184. Machado A.A., Deguti M.M., Genschel J., et al. Neurological manifestations and ATP7B mutations in Wilson's disease. Parkinsonism Relat Disord 2008, 14:246-249.
185. Machado A.C., Deguti M.M., Caixeta L., et al. Mania as the first manifestation of Wilson's disease. Bipolar Disord 2008, 10:447-450.
186. Madden J.W., Ironside J.W., Triger D.R., et al. An unusual case of Wilson's disease. Q J Med 1985, 55:63-73.
187. Magalhaes A.C.A., Caramelli P., Menezes J.R., et al. Wilson's disease: MRI with clinical correlation. Neuroradiology 1994, 36:97-100.
188. Majumdar R., Al Jumah M., Fraser M. 4193delC, a common mutation causing Wilson's disease in Saudi Arabia: rapid molecular screening of patients and carriers. Mol Pathol 2003, 56:302-304.
189. Mak C.M., Lam C.-W. Diagnosis of Wilson's disease: a comprehensive review. Crit Rev Clin Lab Sci 2008, 45:263-290.
190. Malhi H., Irani A.N., Volenberg I., et al. Early cell transplantation in LEC rats modeling Wilson's disease eliminates hepatic copper with reversal of liver disease. Gastroenterology 2002, 122:438-447.
191. Mandelbrote B.M., Stanier M.W., Thompson R.H.S., et al. Studies on copper metabolism in demyelinating diseases of the central nervous system. Brain 1948, 71:212-228.
192. Margarit E., Bach V., Gómez D., et al. Mutation analysis of Wilson disease in the Spanish population - identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clin Genet 2005, 68:61-68.
193. Markiewicz-Kijewska M., Szymczak M., Ismali H., et al. Liver transplantation for fulminant Wilson's disease in children. Ann Transplant 2008, 13:28-31.
194. Marsden C.D. Wilson's disease. Q J Med 1987, 65:959-966.
195. Martin N.F., Kincaid M.C., Stark W.J., et al. Ocular copper deposition associated with pulmonary carcinoma, IgG monoclonal gammopathy and hypercupremia: a clinicopathologic correlation. Ophthalmology 1983, 90:110-116.
196. 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 1992, 15:609-615.
197. Mason A.L., Marsh W., Alpers D.H. Intractable neurological Wilson's disease treated with orthotopic liver transplantation. Dig Dis Sci 1993, 38:1746-1750.
198. Matarazzo E.B. Psychiatric features and disturbance of circadian rhythm of temperature, pulse, and blood pressure in Wilson's disease. J Neuropsychiatry Clin Neurosci 2002, 14:335-339.
199. Mazariegos G.V., Kramer D.J., Lopez R.C., et al. Safety observations in phase I clinical evaluation of the Excorp Medical Bioartificial Liver Support System after the first four patients. ASAIO J 2001, 47:471-475.
200. McIntyre N. Neurological Wilson's disease. Q J Med 1993, 86:349-350.
201. McIntyre N., Clink H.M., Levi A.J., et al. Hemolytic anemia in Wilson's disease. N Engl J Med 1967, 276:439-444.
202. McMillin G.A., Travis J.J., Hunt J.W. Direct measurement of free copper in serum or plasma ultrafiltrate. Am J Clin Pathol 2009, 131:160-165.
203. McNeill A., Pandolfo M., Kuhn J., et al. The neurological presentation of ceruloplasmin gene mutations. Eur Neurol 2008, 60:200-205.
204. Meenakshi-Sundaram S., Taly A.B., Kamath V., et al. Autonomic dysfunction in Wilson's disease - a clinical and electrophysiological study. Clin Auton Res 2002, 12:185-189.
205. Meenakshi-Sundaram S., Sinha S., Rao M., et al. Cardiac involvement in Wilson's disease - an electrocardiographic observation. J Assoc Physicians India 2004, 52:294-296.
206. Meenakshi-Sundaram S., Mahadevan A., Taly A.B., et al. Wilson's disease: a clinico-neuropathological autopsy study. J Clin Neurosci 2008, 15:409-417.
207. Merle U., Schaefer M., Ferenci P., et al. Clinical presentation, diagnosis, and long-term outcome of Wilson's disease: a cohort study. Gut 2007, 56:115-120.
208. Milkiewicz P., Saksena S., Hubscher S.G., et al. Wilson's disease with superimposed autoimmune features: report of two cases and review. J Gastroenterol Hepatol 2000, 15:570-574.
209. Mindelzun R., Elkin M., Scheinberg I.H., et al. Skeletal changes in Wilson's disease. A radiological study. Radiology 1970, 94:127-132.
210. Mishra D., Kalra V., Seth R. Failure of prophylactic zinc in Wilson disease. Indian Pediatr 2008, 45:151-153.
211. Morita H., Ikeda S., Yamamoto K., et al. Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. Ann Neurol 1995, 37:646-656.
212. Morris J.J., Seifter E., Rettura G., et al. Effect of penicillamine upon wound healing. J Surg Res 1969, 9:143-149.
213. Mueller A., Reuner U., Landis B., et al. Extrapyramidal symptoms in Wilson's disease are associated with olfactory dysfunction. Mov Disord 2006, 21:1311-1316.
214. Müller T., Koppikar S., Taylor R.M., et al. Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children. J Hepatol 2007, 47:270-276.
215. Nair K.R., Pillai P.G. Trunkal myoclonus with spontaneous priapism and seminal ejaculation in Wilson's disease. J Neurol Neurosurg Psychiatry 1990, 53:174.
216. Nazer H., Brismar J., Al-Kawi M.Z., et al. Magnetic resonance imaging of the brain in Wilson's disease. Neuroradiology 1993, 35:130-133.
217. Nicholl D.J., Ferenci P., Polli C., et al. Wilson's disease presenting in a family with an apparent dominant history of tremor. J Neurol Neurosurg Psychiatry 2001, 70:514-516.
218. Nimni M.E. Mechanism of inhibition of collagen cross-linking by penicillamine. Proc R Soc Med 1977, 70:65-72.
219. O'Reilly S., Weber P.M., Oswald H., et al. Abnormalities of the physiology of copper in Wilson's disease. Arch Neurol 1971, 25:28-32.
220. 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, 238:281-287.
221. Olivarez L., Caggana M., Pass K.A., et al. Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach. Ann Hum Genet 2001, 65:459-463.
222. Ormerod J.A. Cirrhosis of the liver in a boy, with obscure and fatal nervous symptoms. St Bart Hosp Rep 1890, XXVI:57.
223. 64-labeled copper by the rat. Am J Physiol 1964, 207:1203-1206.
224. Pabón V., Dumortier J., Gincul R., et al. Long-term results of liver transplantation for Wilson's disease. Gastroenterol Clin Biol 2008, 32:378-381.
225. Pal P.K., Sinha S., Pillai S., et al. Successful treatment of tremor in Wilson's disease by thalamotomy: a case report. Mov Disord 2007, 22:2287-2290.
226. Pass F., Goldfischer S., Sternlieb I., et al. Elastosis perforans serpiginosa after penicillamine therapy for Wilson's disease. Arch Dermatol 1973, 108:713-715.
227. Peña M.M.O., Lee J., Thiele D.J. A delicate balance: homeostatic control of copper uptake and distribution. J Nutr 1999, 129:1251-1260.
228. Petrukhin K., Fischer S.G., Piratsu M., et al. Mapping, cloning and genetic characterization of the region containing the region containing the Wilson disease gene. Nat Genet 1993, 5:338-343.
229. Petrukhin K., Lutsenko S., Chernov I., et al. Characterization of the Wilson's disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 1994, 3:1647-1656.
230. Pillat A. Changes in the eyegrounds in Wilson's disease (pseudosclerosis). Am J Ophthalmol 1933, 16:1-6.
231. Portala K., Westermark K., von Knorring L., et al. Psychopathology in treated Wilson's disease determined by means of CPRS expert and self-ratings. Acta Psychiatr Scand 2000, 101:104-109.
232. Portala K., Levander S., Westermark K., et al. Pattern of neuropsychological deficits in patients with treated Wilson's disease. Eur Arch Psychiatry Clin Neurosci 2001, 251:262-268.
233. Portala K., Westermark K., Ekselius L., et al. Personality traits in treated Wilson's disease determined by means of the Karolinska Scales of Personality (KSP). Eur Psychiatry 2001, 16:362-371.
234. Portala K., Westermark K., Ekselius L., et al. Sleep in patients with treated Wilson's disease. A questionnaire study. Nord J Psychiatry 2002, 56:291-297.
235. Prashanth L.K., Taly A.B., Sinha S., et al. Wilson's disease: diagnostic errors and clinical implications. J Neurol Neurosurg Psychiatry 2004, 75:907-909.
236. Prella M., Baccalá R., Horisberger J.D., et al. Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319. Br J Haematol 2001, 114:230-232.
237. Proesman W., Jaeken J., Eckels R. d-penicillamine induced IgA deficiency in Wilson's disease. Lancer 1976, 2:804-805.
238. Prohaska J.R. Role of copper transporters in copper homeostasis. Am J Clin Nutr 2008, 88:826S-829S.
239. Rathbun J.K. Neuropsychological aspects of Wilson's disease. Int J Neurosci 1996, 85:221-229.
240. Rela M., Heaton N.D., Vougas V., et al. Orthotopic liver transplantation for hepatic complications of Wilson's disease. Br J Surg 1993, 80:909-911.
241. Rimola A., Bruquera M., Rodés J. Kayser-Fleischer-like ring in a cryptogenic cirrhosis. Arch Intern Med 1978, 138:1857-1858.
242. Roberts E.A., Sarkar B. Liver as a key organ in the supply, storage, and excretion of copper. Am J Clin Nutr 2008, 88:851S-854S.
243. Roberts E.A., Schilsky M.L. A practice guideline on Wilson disease. Hepatology 2003, 37:1475-1492.
244. Roberts E.A., Schilsky M.L. Diagnosis and treatment of Wilson disease: an update. Hepatology 2008, 47:2089-2111.
245. 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, 86:301-303.
246. Roh J.K., Lee T.G., Wie B.A., et al. Initial and follow-up brain MRI findings and correlation with the clinical course in Wilson's disease. Neurology 1994, 44:1064-1068.
247. Ross M.E., Jacobson I.M., Dienstag J.L., et al. Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings. Ann Neurol 1985, 17:411-413.
248. Rumpel A. Über das Wesen und die Bedeutung der Leberveränderungen und der Pigmentierunen bei den damit verbundenen Fällen von Pseudosklerose, zugleich ein Beitrag zur Lehre von der Pseudosklerose (Westphal-Strümpell). Dtsch Z Nervenheilkd 1913, 49:54-73.
249. Saatci I., Topcu M., Baltaoglu F.F., et al. Cranial MRI findings in Wilson's disease. Acta Radiol 1997, 38:250-258.
250. Saint-Laurent M. Schizophrenia and Wilson's disease. Can J Psychiatry 1992, 37:358-360.
251. Saito T. Presenting symptoms and natural history of Wilson disease. Eur J Pediatr 1987, 146:261-265.
252. Saka E., Elibol B., Sayqi S. Circling seizures in a case with Wilson's disease. Clin Electroencephalogr 1999, 30:118-121.
253. Sarkar B., Sass-Kortsak A., Clarke R., et al. A comparative study of in vitro and in vivo interaction of d-penicillamine and triethylenetetramine with copper. Proc R Soc Med 1977, 70:13-18.
254. Sato M., Schilsky M.L., Stockert R.J., et al. Detection of multiple forms of human ceruloplasmin: a novel Mr 2 000 000 form. J Biol Chem 1990, 265:2533-2537.
255. Schaefer M., Schellenberg M., Merle U., et al. Wilson protein expression, copper excretion and sweat production in sweat glands of Wilson disease patients and controls. BMC Gastroenterol 2008, 8:29.
256. Scheinberg I.H., Gitlin D. Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease). Science 1952, 116:484-485.
257. Scheinberg I.H., Sternlieb I. Wilson's disease. Annu Rev Med 1965, 16:119-134.
258. Scheinberg I.H., Sternlieb I. Wilson's Disease 1984, WB Saunders, Philadelphia.
259. Scheinberg I.H., Sternlieb I., Richman J. Psychiatric manifestations in patients with Wilson's disease. Wilson's Disease: Birth Defects, Original Article Series 1968, Vol. 4:85-87. The National Foundation - March of Dimes, New York. D. Bergsma, I.H. Scheinberg, I. Sternlieb (Eds.).
260. Schilsky M.L. Treatment of Wilson's disease: what are the relative roles of penicillamine, trientine, and zinc supplementation?. Curr Gastroenterol Rep 2001, 3:54-59.
261. Schilsky M.L., Scheinberg I.H., Sternlieb I. Prognosis of Wilsonian chronic active hepatitis. Gastroenterology 1991, 100:762-767.
262. Schilsky M.L., Scheinberg I.H., Sternlieb I. Liver transplantation for Wilson's disease: indications and outcome. Hepatology 1994, 19:583-587.
263. Schmidt H.H.-J. Role of genotyping in Wilson's disease. J Hepatol 2009, 50:449-452.
264. Schuna A., Osman M.A., Patel R.B., et al. Influence of food on the bioavailability of penicillamine. J Rheumatol 1983, 10:95-97.
265. 11C-raclopride PET findings in patients with parkinsonism. Nucl Med Commun 1994, 15:806-813.
266. Scott J., Gollan J.L., Samourian S., et al. Wilson's disease presenting as chronic active hepatitis. Gastroenterology 1978, 74:645-651.
267. Selimoglu M.A., Ertekin V., Doneray H., et al. Bone mineral density of children with Wilson disease: efficacy of penicillamine and zinc therapy. J Clin Gastroenterol 2008, 42:194-198.
268. Selwa L.M., Vanderzant C.W., Brunberg J.A., et al. Correlation of evoked potential and MRI findings in Wilson's disease. Neurology 1993, 43:2059-2064.
269. Sener R.N. The claustrum on MRI: normal anatomy, and the bright claustrum as a new sign in Wilson's disease. Pediatr Radiol 1993, 23:594-596.
270. Seniow J., Bak T., Gajda J., et al. Cognitive functioning in neurologically symptomatic and asymptomatic forms of Wilson's disease. Mov Disord 2002, 17:1077-1083.
271. Sen S., Felldin M., Steiner C., et al. Albumin dialysis and molecular adsorbents recirculating system (MARS) for acute Wilson's disease. Liver Transpl 2002, 8:962-967.
272. Shafer D.F., Shaw B.W. Fulminant hepatic failure and orthotopic liver transplantation. Semin Liver Dis 1989, 9:189-194.
273. Shah A.B., Chernov I., Zhang H.T., et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 1997, 61:317-328.
274. Shanmugiah A., Sinha S., Taly A.B., et al. Psychiatric manifestations in Wilson's disease: a cross-sectional analysis. J Neuropsychiatry Clin Neurosci 2008, 20:81-85.
275. Shoulson I., Goldblatt D., Plasche W., et al. Some therapeutic observations in Wilson's disease. Adv Neurol 1983, 37:239-246.
276. Siemerling E., Oloff H. Pseudosklerose (Westphal-Strümpell) mit Cornealring (Kayser-Fleischer) und doppelseitiger Scheinkatarakt, die nur bei seitlicher Beleuchtnung sichtbar ist und die der nach Verletzung durch Kupfersplitter entstehenden Katarakt ähnlich ist. Klin Wochenschr 1922, 1:1087-1089.
277. Simon S.R., Branda R.F., Tindle B.H., et al. Copper deficiency and sideroblastic anemia associated with zinc ingestion. Am J Hematol 1988, 28:181-183.
278. Sinha S., Taly A.B., Ravishankar S., et al. Wilson's disease: cranial MRI observations and clinical correlation. Neuroradiology 2006, 48:613-621.
279. Smallwood R.A., Williams H.A., Rosenauer V.M. Liver-copper levels in liver disease: studies using neutron activation analysis. Lancet 1968, 2:1310-1313.
280. Snow B. Laboratory diagnosis and monitoring of Wilson's disease. American Academy of Neurology Course 411, Neurological Aspects of Wilson's Disease 1995, 25-30.
281. Snow B.J., Bhatt M.H., Martin W.R.W., et al. The nigrostriatal dopaminergic pathway in Wilson's disease studied with positron emission tomography. J Neurol Neurosurg Psychiatry 1991, 54:12-17.
282. Soltanzadeh A., Soltanzadeh P., Nafissi S., et al. Wilson's disease: a great masquerader. Eur Neurol 2007, 57:80-85.
283. Soni D., Shukla G., Singh S., et al. Cardiovascular and sudomotor autonomic dysfunction in Wilson's disease - limited correlation with clinical severity. Auton Neurosci 2009, 151:154-158.
284. Sözeri E., Feist D., Ruder H., et al. Proteinuria and other renal functions in Wilson's disease. Pediatr Nephrol 1997, 11:307-311.
285. Spence J.A., Suttle N.F., Wenham G., et al. A sequential study of the skeletal abnormalities, which develop in rats given a small dietary supplement of ammonium tetrathiomolybdate. J Comp Pathol 1980, 90:139-153.
286. Srinivas K., Sinha S., Taly A.B., et al. Dominant psychiatric manifestations in Wilson's disease: a diagnostic and therapeutic challenge!. J Neurol Sci 2008, 266:104-108.
287. Starosta-Rubinstein S., Young A.B., Kluin K., et al. Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging. Arch Neurol 1987, 44:365-370.
288. Steindl P., Ferenci P., Dienes H.P., et al. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997, 113:212-218.
289. Stephenson S. Cases illustrating an unusual form of corneal opacity due to the long-continued application of copper sulphate to the palpebral conjunctiva. Trans Ophthalmol Soc UK 1902, 23:25-27.
290. Sternlieb I. Wilson's disease: indications for liver transplants. Hepatology 1984, 4:15S-17S.
291. Sternlieb I., Scheinberg I.H. Penicillamine therapy for hepatolenticular degeneration. JAMA 1964, 189:748-754.
292. Sternlieb I., Scheinberg I.H. Chronic hepatitis as a first manifestation of Wilson's disease. Ann Intern Med 1972, 76:59-64.
293. Sternlieb I., Scheinberg I.H. The role of radiocopper in the diagnosis of Wilson's disease. Gastroenterology 1979, 77:138-142.
294. Sternlieb I., Scheinberg I.H. Wilson's disease. Liver and Biliary Disease 1985, 949-961. Baillière Tindall, London. R. Wright, K.G.M. Alberti, S. Karran (Eds.).
295. Sternlieb I., Bennett B., Scheinberg I.H. d-penicillamine induced Goodpasture's syndrome in Wilson's disease. Ann Intern Med 1975, 82:673-676.
296. Sternlieb I., Fisher M., Scheinberg I.H. Penicillamine-induced skin lesions. J Rheumatol Suppl 1981, 7:149-154.
297. Sternlieb I., Giblin D.R., Scheinberg I.H. Wilson's disease. Movement Disorders 1987, Vol. 2:288-302. Butterworth, London.
298. Stracciari A., Tempestini A., Borghi A., et al. Effect of liver transplantation on neurological manifestations in Wilson disease. Arch Neurol 2000, 57:384-386.
299. Stravitz R.T., Kramer D.J. Management of acute liver failure. Nat Rev Gastroenterol Hepatol 2009, 6:542-553.
300. Stremmel W., Meyerrose K.-W., Niederau C., et al. Wilson disease: clinical presentation, treatment, and survival. Ann Intern Med 1991, 115:720-726.
301. Strickland G.T., Leu M.L. Wilson's disease. Clinical and laboratory manifestations in 40 patients. Medicine (Baltimore) 1975, 54:113-137.
302. Strümpell A. Über die Westphal'sche Pseudosklerose und über diffuse Hirnsklerose, inbesondere bei Kindern. Dtsch Z Nervenheilk 1898, 12:115-149.
303. Stuerenburg H.J. CSF copper concentrations, blood-brain barrier function, and coeruloplasmin synthesis during the treatment of Wilson's disease. J Neural Transm 2000, 107:321-329.
304. Subramanian I., Vanek Z.F., Bronstein J.M. Diagnosis and treatment of Wilson's disease. Curr Neurol Neurosci Rep 2002, 2:317-323.
305. Sussman W., Scheinberg I.H. Disappearance of Kayser-Fleischer rings. Effects of penicillamine. Arch Ophthalmol 1969, 82:738-741.
306. Suvarna J.C. Kayser-Fleischer ring. J Postgrad Med 2008, 54:238-240.
307. Svetel M., Kozic D., Stefanova E., et al. Dystonia in Wilson's disease. Mov Disord 2001, 16:719-723.
308. Svetel M., Sternić N., Pejović S., et al. Penicillamine-induced lethal status dystonicus in a patient with Wilson's disease. Mov Disord 2001, 16:568-569.
309. Taly A.B., Meenakshi-Sundaram S., Sinha S., et al. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine (Baltimore) 2007, 86:112-121.
310. Tanner M.S., Portmann B., Mowat A.P., et al. Increased hepatic copper concentration in Indian childhood cirrhosis. Lancet 1979, 1:1203-1205.
311. Tanzi R.E., Petrukhin K., Chernov I., et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993, 5:44-50.
312. Tarnacka B., Szeszkowski W., Golebiowski M., et al. MR spectroscopy in monitoring the treatment of Wilson's disease patients. Mov Disord 2008, 23:1560-1566.
313. Tarter R.E., Switala J., Carra J., et al. Neuropsychological impairment associated with hepatolenticular degeneration (Wilson's disease) in the absence of overt encephalopathy. Int J Neurosci 1987, 37:67-71.
314. Tauber J., Steinert R.F. Pseudo-Kayser-Fleischer ring of the cornea associated with non-Wilsonian liver disease: a case report and literature review. Cornea 1993, 12:74-77.
315. Teive H.A., Munhoz R.P., Souza M.M., et al. Status dystonicus: study of five cases. Arq Neuropsiquiatr 2005, 63:26-29.
316. Terada K., Schilsky M., Miura N., et al. ATP7B (WND) protein. Int J Biochem Cell Biol 1998, 30:1063-1067.
317. Thomas G.R., Forbes J.R., Roberts E.A., et al. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995, 9:210-217.
318. Thuomas K.A., Aquilonius S.M., Bergström K., et al. Magnetic resonance imaging of the brain in Wilson's disease. Neuroradiology 1993, 35:134-141.
319. Topaloglu H., Renda Y. Tongue dyskinesia in Wilson disease. Brain Dev 1992, 14:128.
320. Topaloglu H., Gucuyener K., Orkun C., et al. Tremor of tongue and dysarthria as the sole manifestation of Wilson disease. Clin Neurol Neurosurg 1990, 92:295-296.
321. Topcu M., Topcuoglu M.A., Kose G., et al. Evoked potentials in children with Wilson's disease. Brain Dev 2002, 24:276-280.
322. Twomey P.J., Viljoen A., House I.M., et al. Adjusting copper concentrations for caeruloplasmin levels in routine clinical practice. J Clin Pathol 2006, 59:867-869.
323. Twomey P.J., Wierzbicki A.S., House I.M., et al. Percentage non-caeruloplasmin bound copper. Clin Biochem 2007, 40:749-750.
324. Twomey P.J., Viljoen A., Reynolds T.M., et al. Non-ceruloplasmin-bound copper in routine clinical practice in different laboratories. J Trace Elem Med Biol 2008, 22:50-53.
325. van Berge Henegouwen G.P., Tangedahl T.N., Hofman A.F., et al. Biliary secretion of copper in healthy man. Gastroenterology 1977, 72:1228-1231.
326. Vidaud D., Assouline B., Lecoz P., et al. Misdiagnosis revealed by genetic linkage analysis in a family with Wilson disease. Neurology 1996, 46:1485-1486.
327. Walsh F.B., Hoyt W.F. Clinical Neuroophthalmology 1969, Vol. 2:1140. Williams & Wilkins, Baltimore. 3rd Edn.
328. Walshe J.M. Penicillamine, a new oral therapy for Wilson's disease. Am J Med 1956, 21:487-495.
329. Walshe J.M. Wilson's disease: the presenting symptoms. Arch Dis Child 1962, 37:253-256.
330. Walshe J.M. The management of penicillamine nephropathy in Wilson's disease: a new chelating agent. Lancet 1969, 2:1401-1402.
331. Walshe J.M. Copper chelation in patients with Wilson's disease: a comparison of penicillamine and triethylene tetramine hydrochloride. Q J Med 1973, 42:441-452.
332. Walshe J.M. Missed Wilson's disease. Lancet 1975, 2:405-406.
333. Walshe J.M. Wilson's disease (HLD). Handbook of Clinical Neurology 1976, Vol. 27:379-414. North Holland, Amsterdam.
334. Walshe J.M. Penicillamine and the SLE syndrome. J Rheumatol Suppl 1981, 7:155-160.
335. Walshe J.M. Penicillamine-induced SLE. Lancet 1981, 2:1416.
336. Walshe J.M. Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride. Lancet 1982, 1:643-647.
337. Walshe J.M. Assessment of the treatment of Wilson's disease with triethylene tetramine 2HCl (Trien 2HCl). Biological Aspects of Metal Related Diseases 1983, 243-261. Raven Press, New York. B. Sarker (Ed.).
338. Walshe J.M. Wilson's disease. Handbook of Clinical Neurology 1986, Vol. 49:223-238. Elsevier, New York.
339. Walshe J.M. Penicillamine: the treatment of first choice for patients with Wilson's disease. Mov Disord 1999, 14:545-550.
340. Walshe J.M., Munro N.A.R. Zinc induced deterioration in Wilson's disease aborted by treatment with penicillamine, dimercaprol, and a novel zero copper diet. Arch Neurol 1995, 52:10-11.
341. Walshe J.M., Yealland M. Wilson's disease: the problem of delayed diagnosis. J Neurol Neurosurg Psychiatry 1992, 55:692-696.
342. Walshe J.M., Yealland M. Chelation treatment of neurological Wilson's disease. Q J Med 1993, 86:197-204.
343. Walter U., Behnke S., Eyding J., et al. Transcranial brain parenchyma sonography in movement disorders: state of the art. Ultrasound Med Biol 2007, 33:15-25.
344. Weisner B., Hartard C., Dieu C. CSF copper concentration: a new parameter for diagnosis and monitoring therapy of Wilson's disease with cerebral manifestation. J Neurol Sci 1987, 79:229-237.
345. Weiss K.H., Wurz J., Gotthardt D., et al. Localization of the Wilson disease protein in murine intestine. J Anat 2008, 213:232-240.
346. Westermark K., Tedroff J., Thuomas K.A., et al. Neurological Wilson's disease studied with magnetic resonance imaging and with positron emission tomography using dopaminergic markers. Mov Disord 1995, 10:596-603.
347. Westphal C. Über eine dem Bilde der cerebrospinalen grauen Degeneration ähnliche Erkrankung des centralen Nervensystems ohne anatomischen Befund, nebst einigen Bermerkungen über paradoxe Contraction. Arch Psychiatr Nervenkrank 1883, 14:87-134.
348. Wiebers D.O., Hollenhorst R.W., Goldstein N.P. The ophthalmologic manifestations of Wilson's disease. Mayo Clin Proc 1977, 52:409-416.
349. Wiebers D.O., Wilson D.M., McLeod R.A., et al. Renal stones in Wilson's disease. Am J Med 1979, 67:249-254.
350. Willeit J., Kiechl S.G. Wilson's disease with neurological impairment but no Kayser-Fleischer rings. Lancet 1991, 337:1426.
351. Williams F.J.B., Walshe J.M. Wilson's disease. An analysis of the cranial computerized tomographic appearances found in 60 patients and the changes in response to treatment with chelating agents. Brain 1981, 104:735-752.
352. Wilson A.M., Schlade-Bartusiak K., Tison J.L., et al. A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease. Biochimie 2009, 91:1342-1345.
353. Wilson S.A.K. Progressive lenticular degeneration: a familial nervous system disease associated with cirrhosis of the liver. Brain 1912, 34:295-507.
354. Xu X.H., Yang B.X., Feng Y.K. Wilson's disease (hepatolenticular degeneration): clinical analysis of 80 cases. Chin Med J (Engl) 1981, 94:673-678.
355. Yamaguchi Y., Heiny M.E., Gitlin J.D. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993, 197:271-277.
356. Yang F., Naylor S.L., Lum J.B., et al. Characterization, mapping, and expression of the human ceruloplasmin gene. Proc Natl Acad Sci U S A 1986, 83:3257-3261.
357. Yarze J.C., Martin P., Munoz S.J., et al. Wilson's disease: current status. Am J Med 1992, 92:643-654.
358. Yoo H.W. Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease. Genet Med 2002, 4:43S-48S.
359. Yoshitoshi E.Y., Takada Y., Oike F., et al. Long-term outcomes for 32 cases of Wilson's disease after living-donor transplantation. Transplantation 2009, 87:261-267.
360. Yuzbasiyan-Gurkan V., Brewer G.J., Abrams G.D., et al. Treatment of Wilson's disease with zinc: V. Changes in serum levels of lipase, amylase and alkaline phosphatase in patients with Wilson's disease. J Lab Clin Med 1989, 114:520-526.
361. Zhang L., Lichtmannegger J., Summer K.H., et al. Tracing copper-thiomolybdate complexes in a prospective treatment for Wilson's disease. Biochemistry 2009, 48:891-897.
362. Zhuang X.-H., Mo Y., Jiang X.-Y., et al. Analysis of renal impairment in children with Wilson's disease. World J Pediatr 2008, 4:102-105.