منابع مشابه
Wilson Disease Watch
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 ...
متن کاملCholelithiasis and Wilson disease.
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...
متن کاملCoagulation Parameters in Wilson Disease.
BACKGROUND & AIMS Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Alterations of copper metabolism have been associated with changes in coagulation factors. The aim of the present study was the analysis of coagulation factors in WD patients. METHODS 100 patients attending a tertiary WD outpatient clinic were analyzed in a prospective cross sectional cohort study. ...
متن کاملComputed tomography of Wilson disease.
Computed tomography (CT) was performed on 25 patients with Wilson disease (hepatolenticular degeneration). The diagnosis was confirmed biochemically. CT was normal in seven patients, five of whom presented clinically with the hepatic form of the disease. In 10 patients, CT abnormalities were graded as mild: there were atrophic changes around the basal ganglia and in the cortex and cerebellum. I...
متن کاملwilson disease and molecular genetic diagnosis
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...
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ژورنال
عنوان ژورنال: Nature Reviews Disease Primers
سال: 2018
ISSN: 2056-676X
DOI: 10.1038/s41572-018-0018-3