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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