References
                                            
                                                    
                                                        1. 	Lorente-Arencibia P, Garciá-Villarreal L, González-Montelongo R, et al. Wilson Disease Prevalence: Discrepancy between Clinical Records, Registries and Mutation Carrier Frequency. J Pediatr Gastroenterol Nutr. 2022;74(2):192–9.
                                                    
                                                        2. 	Coffey A, Durkie M, Hague S, et al. A genetic study of Wilson’s disease in the United Kingdom. Brain. 2013;136:1476–87.
                                                    
                                                        3. 	Schilsky ML, Roberts EA, Bronstein JM, et al. A Multidisciplinary Approach to the Diagnosis and Management of Wilson Disease:Executive Summary of the 2022 Practice Guidance on Wilson Disease from the American Association for the Study of Liver Diseases. Hepatology. 2022; Dec 7.  doi: 10.1002/hep.32805.
                                                    
                                                        4. 	Sandahl TD, Laursen TL, Munk DE, et al. The Prevalence of Wilson’s Disease: An Update. Hepatology. 2020;71(2):722–32.
                                                    
                                                        5. 	Berenguer M, Vergara M, Almohalla C, et al. Significant heterogeneity in the diagnosis and long-term management of Wilson disease: Results from a large multicenter Spanish study. Gastroenterol Hepatol. 2022; https://doi.org/10.1016/j.gastrohep.2022.10.018.
                                                    
                                                    
                                                
                                                    
                                                        6. Ryan A, Nevitt SJ, Tuohy O, et al. Biomarkers for diagnosis of Wilson’s disease. Cochrane Database Syst Rev. 2019;11(CD012267).
                                                    
                                                        7. 	EASL. Clinical Practice Guidelines: Wilson’s disease. J Hepatol. 2012;56(3):671–85.
                                                    
                                                        8. 	Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003;23(3):139–42.
                                                    
                                                        9. 	Cauza E, Maier-Dobersberger T, Polli C, et al. Screening for Wilson’s disease in patients with liver diseases by serum ceruloplasmin. J Hepatol. 1997;27(2):358–62.
                                                    
                                                        10. 	Collins CJ, Yi F, Dayuha R, et al. Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease. Gastroenterology. 2021;160(7):2367–2382.e1.
                                                    
                                                        11.       El Balkhi S, Trocello JM, Poupon J, et al. Relative exchangeable copper: A new highly sensitive and highly specific biomarker for Wilson’s disease diagnosis. Clin Chim Acta. 2011;412(23–24):2254–60.
                                                    
                                                        12. 	El Balkhi S, Trocello JM, Poupon J, et al. Relative exchangeable copper: A new highly sensitive and highly specific biomarker for Wilson’s disease diagnosis. Liver Int 2012 Nov 29;44(1):192–200.
                                                    
                                                    
                                                
                                                    
                                                        13. 	Trocello JM, El Balkhi S, Woimant F, et al. Relative exchangeable copper: A promising tool for family screening in Wilson disease. Mov Disord. 2014;29(4):558–62.
                                                    
                                                        14. Guillaud O, Brunet AS, Mallet I, et al. Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease. Liver Int. 2018;38(2):350–7.
                                                    
                                                        15. 	Ngwanou DH, Couchonnal E, Parant F, et al. Long-Term Urinary Copper Excretion and Exchangeable copper in children with Wilson Disease under chelation therapy. J Pediatr Gastroenterol Nutr. 2022; Oct 1;75(4):e75-e80
                                                    
                                                        16. 	Jacquelet E, Poujois A, Pheulpin MC, et al. Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson’s disease. J Inherit Metab Dis. 2021;44(6):1481–8.
                                                    
                                                        17. 	del Castillo Busto ME, Cuello-Nunez S, Ward-Deitrich C, et al. A fit-for-purpose copper speciation method for the determination of exchangeable copper relevant to Wilson’s disease. Anal Bioanal Chem. 2022;414(1):561–73.
                                                    
                                                        18. 	Sternlieb I, Scheinberg IH. Radiocopper in Diagnosing Liver Disease. Semin Nucl Med. 1972;2:176–88.
                                                    
                                                        19. 	Członkowska A, Rodo M, Wierzchowska-Ciok A, et al. Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease. Liver Int. 2018;38(10):1860–6.
                                                    
                                                        20. 	Sandahl TD, Gormsen LC, Kjærgaard K, et al. The pathophysiology of Wilson’s disease visualized: A human 64Cu PET study. Hepatology. 2022; Jun;75(6):1461-1470
                                                    
                                                        21. 	Murillo O, Collantes M, Gazquez C, et al. High value of 64Cu as a tool to evaluate the restoration of physiological copper excretion after gene therapy in Wilson’s disease. Mol Ther - Methods Clin Dev. 2022;26:98–106.
                                                    
                                                        22. 	Weiss KH, Askari FK, Czlonkowska A, et al. Bis-choline tetrathiomolybdate in patients with Wilson ’ s disease : an open-label , multicentre , phase 2 study. Lancet Gastroenterol Hepatol. 2017;2(12):869–76.
                                                    
                                                        23. 	Weiss KH, Schilsky M, Czlonkowska A, et al. Efficacy and safety of ALXN1840 versus standard of care inWilson disease: primary results from an ongoing phase 3, randomized, controlled, rater-blinded trial. J Hepatol. 2022;77(S1):S1 (Abstract GS001).
                                                    
                                                        24. 	Foster JR, Billimoria K, del Castillo Busto ME, et al. Accumulation of molybdenum in major organs following repeated oral administration of bis-choline tetrathiomolybdate in the Sprague Dawley rat. J Appl Toxicol. 2022;42(11):1807–21.
                                                    
                                                        25. 	Murillo O, Moreno D, Gazquez C, et al. Liver Expression of a MiniATP7B Gene Results in Long‐Term Restoration of Copper Homeostasis in a Wilson Disease Model in Mice. Hepatology. 2019; Jul;70(1):108-126