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

• Autori principali: Natalia Wdowiak (Autore), Martyna Choinka (Autore), Agata Konopka (Autore), Zuzanna Szczepaniak (Autore), Kinga Adamska (Autore)
• Natura: Libro
• Pubblicazione: Nicolaus Copernicus University in Toruń, 2024-10-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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....