Vol 7, Supplement 2 (April 2019): Annals of Translational Medicine (Focus on “Wilson’s disease: From Genetics to Management of Disease”)

Review Article

Genetics and epigenetic factors of Wilson disease
Valentina Medici, Janine M. LaSalle
Population screening and diagnostic strategies in screening family members of Wilson’s disease patients
Huamei Li, Ran Tao, Lifang Liu, Shiqiang Shang
Clinical presentations of Wilson disease
Samuel Shribman, Thomas T. Warner, James S. Dooley
Clinical features of Wilson disease
Wolfgang Stremmel, Uta Merle, Ralf Weiskirchen
Clinical manifestations of Wilson disease in organs other than the liver and brain
Karolina Dzieżyc-Jaworska, Tomasz Litwin, Anna Członkowska
Classification and differential diagnosis of Wilson’s disease
Wieland Hermann
Neurologic impairment in Wilson disease
Petr Dusek, Tomasz Litwin, Anna Członkowska
Clinical practice guidelines in Wilson disease
Chiara Saroli Palumbo, Michael L. Schilsky
Clinical management of Wilson disease
Peter Hedera
Challenges in the diagnosis of Wilson disease
Aurélia Poujois, France Woimant
Wilson disease—treatment perspectives
Tomasz Litwin, Karolina Dzieżyc, Anna Członkowska
Current anti-copper therapies in management of Wilson disease
Isabelle Mohr, Karl Heinz Weiss
New tools for Wilson’s disease diagnosis: exchangeable copper fraction
France Woimant, Nouzha Djebrani-Oussedik, Aurélia Poujois
Preclinical models of Wilson’s disease, why dogs are catchy alternatives
Hedwig S. Kruitwagen, Louis C. Penning
Determination of copper poisoning in Wilson’s disease using laser ablation inductively coupled plasma mass spectrometry
Sabine Weiskirchen, Philipp Kim, Ralf Weiskirchen

Case Report

Difficulties in diagnosis and treatment of Wilson disease—a case series of five patients
Anna Członkowska, Karolina Dzieżyc-Jaworska, Bożena Kłysz, Rędzia-Ogrodnik Barbara, Tomasz Litwin
The interesting case—orphan diseases—double trouble
Ulrike Reuner, Wolfgang Stremmel, Ralf Weiskirchen