Wilson's disease

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Wilson's disease

[′wil·sənz di‚zēz]
(medicine)
A hereditary disease of ceruloplasmin formation transmitted as an autosomal recessive and characterized by decreased serum ceruloplasmin and copper values, and increased excretion of copper in the urine. Also known as hepatolenticular degeneration.
References in periodicals archive ?
[2] Nonstandard abbreviations: URL, upper reference limit; RI, reference interval; AST, aspartate aminotransferase; ALT, alanine aminotransferase; ALP, alkaline phosphatase; FHF, fulminant hepatic failure; HELLP, hemolysis, elevated liver enzymes and low platelets; WD, Wilson disease; AIH, autoimmune hepatitis; WD-FHF, FHF associated with WD; dw, dry weight; OLT, orthotopic liver transplantation.
Iron accumulation in the liver of male patients with Wilson disease. Am J Gastroenterol 2001; 96: 3147-3151.
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.
Wilson Therapeutics added that in line with its commitment to improve the life of patients with Wilson Disease, it will continue to conduct exploratory research in parallel with the FOCuS study to further deepen the understanding of the disease, the mode of action of WTX101 and its impact on copper control.
Rarely, Wilson disease and autoimmune hepatitis (AIH; discussed in more detail in Chronic Hepatic Injury) can present as acute hepatic injury (Table 2).
The proceeds will be utilised to advance a diversified range of gene therapy programmes aiming at rare, inherited metabolic diseases, including Wilson Disease, progressive familial intrahepatic cholestasis type two (PFIC2), progressive familial intrahepatic cholestasis type three (PFIC3) and citrullinemia type I.
Serum samples of healthy persons from a blood bank, of patients with vivax malaria from the Malaria Eradication Center of Sanliurfa of Turkey, and from patients with Wilson disease or bronchial asthma from the Research Hospital of Harran University of Turkey were supplied.
M2 EQUITYBITES-October 24, 2017-Wilson Therapeutics announces agreement with the FDA and EMA on study protocol for single pivotal Phase 3 FOCuS study with WTX101 in Wilson Disease
According to Vivet, its funds will be used to advance a diversified pipeline of gene therapy programmes targeting rare, inherited metabolic diseases, including Wilson Disease, progressive familial intrahepatic cholestasis type 2 (PFIC2), progressive familial intrahepatic cholestasis type 3 (PFIC3) as well as citrullinemia type I.
According to the company, preliminary data from its ongoing phase 2 trial continue to indicate that WTX101 has the potential to address the unmet medical needs in Wilson Disease and it is set to release final topline data from the study before the end of the year"