Add to ORKGDNA-sequencing in 23 patients with Wilson's disease (WD) led to the discovery of 5 new mutations. Most of the patients carried the well-known H1069Q mutant, which did not show a specific relation to the age of onset of symptoms. Additional tests were erformed on a larger cohort of WD-patients, inclusive of: multimodality evoked potential measurements (n=44) and neuropsychological testing (n=44), detailed motor function analyses (n=63), and screening for immunological and rheumatological abnormalities in blood samples (n=30). Evoked potentials were not superior to motor testing or control of standard parameters of copper metabolism in therapy control. Correlation analysis of cognitive and motor slowing revealed only mild deficits in WD-patie...
A disorder of copper metabolism at Wilson’s disease (WD), conditioned by a mutation of adenosine thr...
Wilson disease is an inherited, autosomal recessive, copper accumulation and toxicity disorder that ...
Wilson’s disease is a rare autosomal recessive genetic condition. The ATP7B gene has been identi...
Wilson's Disease is a rare genetic disorder with the prevalence of 1 in every 30,000 people, due to ...
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism, caused by mutations i...
Despite a long history, Wilson's disease, an autosomal recessive disease caused by mutations in the ...
Wilson disease (WD), an inborn error of copper metabolism, is inherited in an autosomal recessive ma...
Wilson's disease is an autosomal recessive disorder of copper metabolism. The culprit gene is ATP7B....
Wilson`s disease (WD) is a rare inborn metabolic error characterized by deficient biliary copper exc...
Wilson disease (WD) is an autosomal recessive disorder of copper transport. WD patients are presenti...
Wilson’s disease is a rare inborn error of metabolism caused by a defect in ATP7B, a protein necessa...
Background: Wilson disease (WD) is an autosomal recessive disorder caused by defects in the ATPase, ...
Wilson disease (WD) is an autosomal recessive disorder caused by defects in the ATPase, Cu2� trans...
Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of gen...
Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of gen...
A disorder of copper metabolism at Wilson’s disease (WD), conditioned by a mutation of adenosine thr...
Wilson disease is an inherited, autosomal recessive, copper accumulation and toxicity disorder that ...
Wilson’s disease is a rare autosomal recessive genetic condition. The ATP7B gene has been identi...
Wilson's Disease is a rare genetic disorder with the prevalence of 1 in every 30,000 people, due to ...
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism, caused by mutations i...
Despite a long history, Wilson's disease, an autosomal recessive disease caused by mutations in the ...
Wilson disease (WD), an inborn error of copper metabolism, is inherited in an autosomal recessive ma...
Wilson's disease is an autosomal recessive disorder of copper metabolism. The culprit gene is ATP7B....
Wilson`s disease (WD) is a rare inborn metabolic error characterized by deficient biliary copper exc...
Wilson disease (WD) is an autosomal recessive disorder of copper transport. WD patients are presenti...
Wilson’s disease is a rare inborn error of metabolism caused by a defect in ATP7B, a protein necessa...
Background: Wilson disease (WD) is an autosomal recessive disorder caused by defects in the ATPase, ...
Wilson disease (WD) is an autosomal recessive disorder caused by defects in the ATPase, Cu2� trans...
Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of gen...
Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of gen...
A disorder of copper metabolism at Wilson’s disease (WD), conditioned by a mutation of adenosine thr...
Wilson disease is an inherited, autosomal recessive, copper accumulation and toxicity disorder that ...
Wilson’s disease is a rare autosomal recessive genetic condition. The ATP7B gene has been identi...