Related Experiment Video
Updated: Aug 3, 2025

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders
Published on: April 28, 2023
Wilson's disease: best practice
Aidan Ryan1,2, Patrick J Twomey3,4, Paul Cook5
1Chemical Pathology, Cork University Hospital, Cork, Ireland, Cork University Hospital Biochemistry Laboratory, Cork, Ireland aidan.ryan1@hse.ie.
Abstract:
Wilson's disease is an autosomal recessive disorder arising from pathogenic variants in the Atp7b gene on chromosome 13. The defective translated ATPase copper (Cu) transport protein produced leads to Cu accumulation, initially affecting the liver but eventually affecting other cells. It is just over 20 years since the last Best Practice on this topic in this journal. This review is an update on this, covering new disease biomarkers, pathogenesis, assumptions around clinical features and developments in therapy.
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