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

• Main Authors: Natalia Wdowiak (Author), Martyna Choinka (Author), Agata Konopka (Author), Zuzanna Szczepaniak (Author), Kinga Adamska (Author)
• Format: Book
• Published: Nicolaus Copernicus University in Toruń, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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....