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Table 1 Top 20 most-cited papers related to Wilson Disease from 2001 to 2020, whose authors involved clinicians

From: Use of the bibliometric in rare diseases: taking Wilson disease personally

Rank Title Total cites Authors Journal Year Type
1 Diagnosis and treatment of Wilson disease: An update 772 Eve A. Roberts, Michael L. Schilsky Hepatology 2008 Guideline
2 Wilson's disease 745 Aftab Ala, Ann P. Walker, Keyoumars Ashkan, James S. Dooley, Michael L. Schilsky Lancet 2007 Review
3 Diagnosis and phenotypic classification of Wilson disease 549 Peter Ferenci, Karel Caca, Georgios Loudianos, Giorgina Mieli-Vergani, Stuart Tanner, Irmin Sternlieb, Michael L. Schilsky, et al Liver International 2003 Review
4 EASL Clinical Practice Guidelines: Wilson's disease 548 Peter Ferenci, Anna Czlonkowska, Wolfgang Stremmel, Roderick Houwen, William Rosenberg, Michael L. Schilsky, et al Journal of Hepatology 2012 Guideline
5 Wilson's disease and other neurological copper disorders 345 Oliver Bandmann, Karl Heinz Weiss, Stephen Kaler The Lancet Neurology 2015 Review
6 Clinical presentation, diagnosis and long-term outcome of Wilson's disease: A cohort study 337 UTA Merle, Matthias R. Schaefer, Peter Ferenci, Wolfgang Stremmel Gut 2007 Article
7 A practice guideline on Wilson disease 307 Eve A. Roberts, Michael L. Schilsky Hepatology 2003 Review
8 Wilson Disease 266 Jonathan D Gitlin Gastroenterology 2003 Review
9 Wilson's disease in children: 37-year experience and revised King's for liver transplantation 230 Anil Dhawan, Rachel M. Taylor, Paul Cheeseman, Pamela De Silva, Leah Katsiyiannakis, Giorgina Mieli-Vergani Liver Transplantation 2005 Article
10 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 199 George J. Brewer, Fred Askari, Matthew T. Lorincz, Martha Carlson, Michael L. Schilsky, Karen J Kluin, et al Archives of Neurology 2006 Article
11 Wilson's disease: An update 197 Shyamal K. Das, Kunal Ray Nature Clinical Practice Neurology 2006 Review
12 A genetic study of Wilson's disease in the United Kingdom 186 Alison J Coffey, Miranda Durkie, Stephen Hague, Kirsten McLay, Jennifer Emmerson, Christine Lo, Stefanie Klaffke, Christopher J Joyce, Anil Dhawan, et al Brain 2013 Article
13 Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: Impact on genetic testing 177 Peter Ferenci Human Genetics 2006 Review
14 High copper selectively alters lipid metabolism and cell cycle machinery in the mouse model of Wilson disease 159 Dominik Huster, Tina D. Purnat, Jason L. Burkhead, Martina Ralle, Oliver Fiehn, Franziska Stuckert, N Erik Olson, Daniel Teupser, Svetlana Lutsenko Journal of Biological Chemistry 2007 Article
15 Wilson disease: Description of 282 patients evaluated over 3 decades 157 Arun B. Taly, Meenakshi-Sundaram S., Sanjib Sinha, HS. Swamy, GR. Arunodaya Medicine 2007 Article
16 Late-Onset Wilson's Disease 155 Peter Ferenci, Anna Czlonkowska, UTA Merle, Szalay Ferenc, Grazyna Gromadzka, Cihan Yurdaydin, Wolfgang Vogel, Radan Bruha, Hartmut T Schmidt, Wolfgang Stremmel Gastroenterology 2007 Article
17 Neurologic Wilson's disease 148 Matthew T. Lorincz Annals of the New York Academy of Sciences 2010 Review
18 Wilson's disease: Cranial MRI observations and clinical correlation 144 Sanjib Sinha, Arun B. Taly, Saiprasad Ravishankar, et al Neuroradiology 2006 Article
19 Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests 142 Jessica D. Korman, Irene Volenberg, Jody Balko, Joe Webster, Frank V Schiodt, Robert H. Squires Jr, Robert J Fontana, William M. Lee, Michael L. Schilsky, Hepatology 2008 Article
20 Diagnostic value of quantitative hepatic copper determination in patients with Wilson's disease 141 Peter Ferenci, Petra Steindl-Munda, Wolfgang Vogel, Wolfgang Jessner, Michael Gschwantler, Rudolf Stauber, et al Clinical Gastroenterology and Hepatology 2005 Article