
pmid: 29988989
pmc: PMC6034199
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism characterized by excessive accumulations of copper in the liver, central nervous system, kidneys, eyes and other organs. WD is characterized by reduced in corporation of copper into ceruloplasmin and a decreased biliary copper excretion. The disease is progressive and ultimately fatal if untreated. The worldwide prevalence of WD is estimated to be approximately one case per 30000, whereby at least a half of WD patients remain undiagnosed and die of untreated disease. The age at onset and clinical presentation greatly vary among WD patients.
Ceruloplasmin, Wilson's disease, Copper, ATP7B mutations
Ceruloplasmin, Wilson's disease, Copper, ATP7B mutations
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