Wilson’s disease: A Comprehensive Review of Genetics, Pathophysiology, Clinical Symptoms, Diagnostic Techniques and Current Treatment

Introduction: Wilson's disease (WD) is a genetic disease, inherited in an autosomal recessive manner, caused by a mutation in the ATP7B gene, which results in impaired excretion of copper in the bile. This causes the accumulation of copper in various tissues and organs, leading to their damage...

Full description

Bibliographic Details

Published in:	Quality in Sport
Main Authors:	Natalia Wdowiak, Martyna Choinka, Agata Konopka, Zuzanna Szczepaniak, Kinga Adamska
Format:	Article
Language:	English
Published:	Nicolaus Copernicus University in Toruń 2024-10-01
Subjects:	Wilson’s disease Copper metabolism Copper toxicity ATP7B Ceruloplasmin Gene Mutation
Online Access:	https://apcz.umk.pl/QS/article/view/55417