Whom and how to screen for Wilson disease

References

• Reilly M, Daly L, Hutchinson M. An epidemiological study of Wilson’s disease in the Republic of Ireland. J Neurol Neurosurg Psychiatry 1993;56:298-300
   PubMedGoogle Scholar
• Bachmann H, Lössner J, Kühn HJ, Siegemund R. Occurrence, genetics and epidemiology of Wilson´s disease in east Germany. In: Czlonkowska A, van der Hamer CJA, editors. Proc. 5th. Intern. Symposium on Wilson´s disease. Technical Univ; Delft, Netherlands: 1991. p. 121-8
   Google Scholar
• Coffey AJ, Durkie M, Hague S, et al. A genetic study of Wilson’s disease in the United Kingdom. Brain 2013;36:1476-87
   Google Scholar
• Wilson disease mutation database. Available from: www.wilsondisease.med.ualberta.ca/database.asp
   Google Scholar
• Kim JW, Kim JH, Seo JK, et al. Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases. World J Hepatol 2013;5:156-9
   PubMedGoogle Scholar
• Wilson DC, Phillips MJ, Cox DW, Roberts EA. Severe hepatic Wilson’s disease in preschool-aged children. J Pediatr 2000;137:719-22
   PubMed Web of Science ®Google Scholar
• Ferenci P, Członkowska A, Merle U, et al. Late onset Wilson disease. Gastroenterology 2007;132:1294-8
   PubMed Web of Science ®Google Scholar
• Ala A, Borjigin J, Rochwarger A, Michael Schilsky M. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology 2005;41:668-70
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Gow PJ, Smallwood RA, Angus PW, et al. Diagnosis of Wilson’s disease: an experience over three decades. Gut 2000;46:415-19
   PubMed Web of Science ®Google Scholar
• 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 childhood. J Pediatr Gastroenterol Nutr 1999;28:186-90
   PubMed Web of Science ®Google Scholar
• Walshe JM, Dixon AK. Dangers of non-compliance in Wilson’s disease. Lancet 1986;12:845-7
   Google Scholar
• Brewer GJ. Neurologically presenting Wilson’s Disease. CNS Drugs 2005;19:185-92
   PubMed Web of Science ®Google Scholar
• Eisenbach C, Sieg O, Stremmel W, et al. Diagnostic criteria for acute liver failure due to Wilson disease. World J Gastroenterol 2007;13:1711-14
   PubMedGoogle Scholar
• Walshe JM. The liver in Wilson’s disease. In: Schiff L, Schiff ER, editors. Diseases of the Liver. 6th edition. Lippincott, Philadelphia, PA, USA; 1987. p. 1037-50
   Google Scholar
• Członkowska A, Gromadzka G, Buttner J, Chabik G. Clinical features of hemolysis, elevated liver enzymes and low platelet count syndrome in undiagnosed Wilson disease: report of two cases. Arch Gynecol Obstet 2009;281:129-34
   PubMedGoogle Scholar
• LeWitt PA, Czlonkowska A. Wilson’s disease. In: Lisak RP, Truong DD, Carroll WM, Bhidayasiri R, editors. International neurology: a clinical approach (chapter 164). Wiley-Blackwell; 2009. p. 644-7
   Google Scholar
• Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical Presentation, diagnosis and long-term outcome of Wilson disease – a cohort study. Gut 2007;56:115-20
   PubMed Web of Science ®Google Scholar
• Seniów J, Mroziak B, Członkowska A, Jędryka–Goral A. Self–rated emotional functioning of patients with neurological or asymptomatic form of Wilson’s disease. Clin Neuropsychol 2004;17:367-73
   Google Scholar
• Carta MG, Sorbello O, Moro MF, Bhat KM. Demelia, Serra A, et al. Bipolar disorders and Wilson’s disease. BMC Psychiatry 2012;12:52
   PubMed Web of Science ®Google Scholar
• Seniów J, Bąk T, Gajda J, et al. Cognitive functioning in neurologically symptomatic and asymptomatic forms of Wilson’s disease. Mov Disord 2002;17:1077-108
   PubMed Web of Science ®Google Scholar
• Ferenci P, Steindl-Munda P, Vogel W, et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson disease. Clin Gastroenterol Hepatol 2005;3:811-18
   PubMed Web of Science ®Google Scholar
• Frieden E, Hsieh HS. Ceruloplasmin: the copper transport protein with essential oxidase activity. Adv Enzymol 1976;44:187-236
   PubMedGoogle Scholar
• 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;51:925-30
   PubMedGoogle Scholar
• Gromadzka G, Chabik G, Mendel T, et al. Middle-aged heterozygous carriers of Wilson’s disease do not present with significant phenotypic deviations related to copper metabolism. J Genetics 2010;89:463-7
   PubMedGoogle Scholar
• Perman JA, Werlin SL, Grand RJ, Watkins JB. Laboratory measures of copper metabolism in the differentiation of chronic active hepatitis and Wilson disease in children. J Pediatr 1979;94:564-8
   PubMed Web of Science ®Google Scholar
• Korman JD, Volenberg I, Balko J, et al. Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests. Hepatology 2008;48:1167-74
   PubMed Web of Science ®Google Scholar
• Danks DM. Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. McGraw-Hill, New York, NY, USA; 1995. p. 4125-58
   Google Scholar
• Roberts EA, Cox DW. Wilson disease. Baillieres Clin Gastroenterol 1998;12:237-56
   PubMedGoogle Scholar
• Giacchino R, Marazzi MG, Barabino A, et al. Syndromic variability of Wilson’s disease in children. Clinical study of 44 cases. Ital J Gastroenterol Hepatol 1997;29:155-61
   PubMedGoogle Scholar
• 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;15:609-15
   PubMed Web of Science ®Google Scholar
• Muller T, Koppikar S, Taylor RM, et al. Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson’s disease in children. J Hepatol 2007;47:270-6
   PubMedGoogle Scholar
• Nicastro E, Ranucci G, Vajro P, et al. Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology 2010;52:1948-56
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Ludwig J, Moyer TP, Rakela J. The liver biopsy diagnosis of Wilson´s disease. Am J Clin Pathol 1994;102:443-6
   PubMed Web of Science ®Google Scholar
• Tanner MS. Indian childhood cirrhosis and Tyrolean childhood cirrhosis. Disorders of a copper transport gene? Adv Exp Med Biol 1999;448:127-37
   PubMed Web of Science ®Google Scholar
• Sternlieb I. Mitochondrial and fatty changes in hepatocytes of patients with Wilson’s disease. Gastroenterology 1968;55:354-67
   PubMed Web of Science ®Google Scholar
• Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease- impact on genetic testing. Hum Genet 2006;120:151-9
   PubMed Web of Science ®Google Scholar
• Ferenci P. Wilson’s disease. Clin Gastroenterol Hepatol 2005;3:726-33
   PubMedGoogle Scholar
• Loudianos G, Dessi V, Lovicu M, et al. Molecular characterization of Wilson disease in the Sardinian population – evidence of a founder effect. Hum Mutat 1999;14:294-303
   PubMed Web of Science ®Google Scholar
• Kim EK, Yoo OJ, Song KY, et al. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 1998;11:275-8
   PubMedGoogle Scholar
• Shimizu N, Nakazono H, Takeshita Y, et al. Molecular analysis and diagnosis in Japanese patients with Wilson’s disease. Pediatr Int 1999;41:409-13
   PubMedGoogle Scholar
• van Wassenaer-van Hall HN, van den Heuvel AG, Algra A, et al. Wilson disease: findings at MR imaging and CT of the brain with clinical correlation. Radiology 1996;198:531-6
   PubMedGoogle Scholar
• Jacobs DA, Markowitz CE, Liebeskind DS, Galetta SL. The “double panda sign” in Wilson’s disease. Neurology 2003;61:969
   PubMedGoogle Scholar
• Prashanth LK, Sinha S, Taly AB, Vasudev MK. Do MRI features distinguish Wilson’s disease from other early onset extrapyramidal disorders? An analysis of 100 cases. Mov Disord 2010;25:672-8
   PubMedGoogle Scholar
• Tarnacka B, Szeszkowski W, Gołębiowski M, Członkowska A. MR Spectroscopy in monitoring the treatment of Wilson’s disease patients. Mov Disord 2008;23:1560-6
   PubMedGoogle Scholar
• Piga M, Murru A, Satta L, et al. SPECT in the diagnosis of early neurological involvement in Wilson’s disease. Eur J Nucl Med Mol Imaging 2008;35:716-24
   PubMedGoogle Scholar
• 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
   PubMedGoogle Scholar
• Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139-42
   PubMed Web of Science ®Google Scholar
• European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson’s disease. J Hepatol 2012;56:671-85
   PubMed Web of Science ®Google Scholar