results using these two sets, we identified h1069q mutation in four patients, c.2335t > g mutation in three, c.3061-1g > a splice site mutation in five, c.3305t > c mutation in one, and c.3809a > g mutation in two patients. conclusions the multiplex arms assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with wilson disease. patien...

wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to over 50 years. the primary consequence for most of those with wd is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disea...

Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. Nowadays, up to ...

introduction wilson’s disease is an autosomal recessive disorder, characterized by a disturbance in copper metabolism that leads to copper overload in different tissues of the body. because of various manifestations of wilson’s disease, physicians should have high index suspicion when patients manifest any type of liver disease, neurologic and psychiatric signs and symptoms. discussion wilson’s...

s of the European Wilson Disease Congress EuroWilsoN: European Wilson’s Disease Network Improving information, knowledge and access to expertise and care 2 Summary Quality of life in patients with treated and clinically stable Wilson's disease Kostić VS, Svetel M, Pekmezović T, Tomić A, Kresojević N, Potrebić A, Ješić R Institute of Neurology, School of Medicine, University of Belgrade, Serbia ...

We have studied three children with Wilson disease who had clinical symptoms suggestive of cholecystitis as well as radiologic evidence of gallstones, subsequently proven at the time of laparotomy. The gallstones from the patients with Wilson disease had an appreciably higher content of cholesterol than gallstones from age-matched children with hemolytic disease. Since gallstones may be present...