Reference	Study design; Population	Serum copper and/or CP	Urinary copper	Hepatic copper	Liver toxicity markers	Neurotoxicity markers
(Brewer,  2000 )	WD patients Heterozygotes	CP‐Cu levels in heterozygotes were intermediate between those of normal individuals (higher) and those homozygote for WD (lower)	Elevated Cu levels in 24‐h urine of siblings of WD patients, presumed heterozygotes	Evidence of higher levels in suspected heterozygotes
(Gromadzka et al.,  2010 )	WD heterozygotes (Hzg) (parents of WD patients) (n = 68) Age‐matched controls (n = 31) 24‐h urine collection	Reduced serum caeruloplasmin in Hzg (p < 0.001) Carriers of H1069Q mutation had higher CP than other Hzg (p = 0.03) No difference in serum copper	No difference	Not measured	Reduced ALT (p = 0.014) and AST (p = 0.07) in Hzg No difference in their ratio and on platelets	No related difference
(Ferenci et al.,  2007 )	WD patients (n = 46) late onset (> 40 years) Hepatic WD: 15 of 46 Neurologic WD: 31 of 46 Asymptomatic: 2 of 46	CP < 20 mg/dL in 28 of 31 neurologic patients and in 13 of 15 hepatic patients	> 100 μg/L in all	> 250 μg/g in 13 of 17 patients who were sampled Levels similar to early onset patients	Histology evidence in 13 of 15 hepatic patients and in 14 of 31 neurologic patients	In 2 of 5 hepatic patients (and all the neurologic patients)
(Ferenci,  2005 )	WD patients (n = 114) Hepatic WD (n = 90) Neurologic WD (n = 39) Non‐cholestatic liver disease (NCLD) (n = 219) No evidence of liver disease (n = 26)	Not measured	All WD patients	> 250 μg/g in 95 of 114 WD patients (83.3%) > 250 μg/g in 35 of 39 neurologic WD patients > 250 μg/g in 18 of 20 hepatic WD patients (only 20 were measured) > 250 μg/g in 3 of 219 NCLD patients	Histopathology No correlation of severity of histological findings with copper content	Clinical diagnosis
(Yang et al.,  2015 )	Patients with various liver disease (n = 3,350) of whom 714 had two passes of liver biopsies and copper measurement, WD patients (n = 178) Hepatic WD (n = 105) Neurological WD (n = 31) Hepatoneurological WD (n = 25) Presymptomatic WD (n = 17) Heterozygote WD (n = 24)	Not reported	Not reported	> 250 μg/g in 168 of 178 WD patients > 250 μg/g in 105 of 105 hepatic WD patients > 250 μg/g in 60 of 60 neurologic WD patients > 250 μg/g in 1 of 24 heterozygotes; 4 of 24 had > 150 μg/g and 19 of 24 had > 75 μg/g	Clinical diagnosis Hepatic copper was higher in hepatic WD than other phenotypes	Clinical diagnosis