Naslov
Wilson's Disease

Autori
Vukasović, Ines

Izvornik
Journal of the International Federation of Clinical Chemistry (1051-2292) 15 (2004), 3; 104-106

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
Wilson's disease ; Copper ; ATP7B mutations ; Ceruloplasmin

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti, Farmacija

POVEZANOST RADA