PT  - JOURNAL ARTICLE
AU  - Aidan Ryan
AU  - Patrick J Twomey
AU  - Paul Cook
TI  - Wilson’s disease: best practice
AID  - 10.1136/jcp-2022-208551
DP  - 2023 Apr 12
TA  - Journal of Clinical Pathology
PG  - jcp-2022-208551
4099  - http://jcp.bmj.com/content/early/2023/04/11/jcp-2022-208551.short
4100  - http://jcp.bmj.com/content/early/2023/04/11/jcp-2022-208551.full
AB  - 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.