Wilson 病（肝豆状核变性）

Askari FK, Greenson J, Dick RD, et al. Treatment of Wilson's disease with zinc. XVIII. initial treatment of the hepatic decompensation presentation with trientine and zinc. J Lab Clin Med. 2003;142:385-390.

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Nazer H, Ede RJ, Mowat AP, et al. Wilson's disease: clinical presentation and use of prognostic index. Gut. 1986;27:1377-1381.

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Brewer GJ. Wilson's disease: a clinician's guide to recognition, diagnosis, and management. Boston, MA: Kluwer Academic Publishers, 2001.

Scheinberg IH, Sternlieb I. Wilson's disease. In: Smith LHJ, ed. Major problems in internal medicine. Vol 23. Philadelphia, PA: WB Saunders, 1984:1-171.

Brewer GJ, Dick RD, Johnson VD, et al. Treatment of Wilson's disease with zinc: XV long-term follow-up studies. J Lab Clin Med. 1998;132:264-278.

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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;63:521-527.

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1.  Bull PC, Thomas GR, Rommens JM, et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet. 1993;5:327-337.

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2.  Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. 1993;5:344-350.

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3.  Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun. 1993;197:271-277.

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4.  Askari FK, Greenson J, Dick RD, et al. Treatment of Wilson's disease with zinc. XVIII. initial treatment of the hepatic decompensation presentation with trientine and zinc. J Lab Clin Med. 2003;142:385-390.

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5.  Nazer H, Ede RJ, Mowat AP, et al. Wilson's disease: clinical presentation and use of prognostic index. Gut. 1986;27:1377-1381.

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6.  Starosta-Rubinstein S, Young AB, Kluin K, et al. Clinical assessment of 31 patients with Wilson's disease: correlations with structural changes on magnetic resonance imaging. Arch Neurol. 1987;44:365-370.

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7.  Brewer GJ. Behavioral abnormalities in Wilson's disease. In: Weiner WJ, Lang AE, Anderson KE, eds. Behavioral neurology of movement disorders. 2nd ed. Philadelphia, PA: Lippincott, Williams & Wilkins, 2005:262-274.

8.  Dedoussis GV, Genschel J, Sialvera TE, et al. Wilson disease: high prevalence in a mountainous area of Crete. Ann Hum Genet. 2005;69:268-274.

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9.  Brewer GJ. Wilson's disease: a clinician's guide to recognition, diagnosis, and management. Boston, MA: Kluwer Academic Publishers, 2001.

10.  Hoogenraad TU. Wilson's disease. London, UK: Saunders, 1996.

11.  Scheinberg IH, Sternlieb I. Wilson's disease. In: Smith LHJ, ed. Major problems in internal medicine. Vol 23. Philadelphia, PA: WB Saunders, 1984:1-171.

12.  Ala A, Borjigin J, Rochwarger A, et al. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology. 2005;41:668-670.

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13.  Cox DW, Roberts E. Wilson disease. Seattle: GeneClinics, University of Washington; 2006.

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14.  Brewer GJ, Yuzbasiyan-Gurkan V. Wilson disease. Medicine Baltimore. 1992;71:139-164.

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15.  Brewer GJ, Yuzbasiyan-Gurkan V, Dick R, et al. Does a vegetarian diet control Wilson's disease? J Am Coll Nutr. 1993;12:527-530.

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16.  Brewer GJ. Recognition, diagnosis, and management of Wilson's disease. Proc Soc Exp Biol Med. 2000;223:39-46.

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17.  Brewer GJ. Wilson's disease. In: Kasper DL, Braunward E, Fauci AS, et al, eds. Harrison's principles of internal medicine. 16th ed. New York, NY: McGraw-Hill Companies, 2004:2313-2315.

18.  Brewer GJ. Novel therapeutic approaches to the treatment of Wilson's disease. Exp Opin Pharmacother. 2006;7:317-324.

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19.  Merle U, Eisenbach C, Weiss KH, et al. Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson's disease. J Hepatol. 2009;51:925-930.

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20.  McMillin GA, Travis JJ, Hunt JW. Direct measurement of free copper in serum or plasma ultrafiltrate. Am J Clin Pathol. 2009;131:160-165.

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21.  Hedera P. Update on the clinical management of Wilson's disease. Appl Clin Genet. 2017 Jan 13;10:9-19.

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22.  Roberts EA, Schilsky ML; American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47:2089-2111.

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23.  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;11:441-448.

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24.  Walshe JM. Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride. Lancet. 1982;1:643-647.

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25.  Brewer GJ, Dick RD, Johnson VD, et al. Treatment of Wilson's disease with zinc: XV long-term follow-up studies. J Lab Clin Med. 1998;132:264-278.

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26.  Walshe JM. Penicillamine, a new oral therapy for Wilson's disease. Am J Med. 1956;21:487-495.

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27.  Brewer GJ, Terry CA, Aisen AM, et al. Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol. 1987;44:490-493.

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28.  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;63:521-527.

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29.  Brewer GJ, Hedera P, Kluin KJ, et al. Treatment of Wilson disease with ammonium tetrathiomolybdate: III. initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy. Arch Neurol. 2003;60:379-385.

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