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

• Principais autores: Natalia Wdowiak (Autor), Martyna Choinka (Autor), Agata Konopka (Autor), Zuzanna Szczepaniak (Autor), Kinga Adamska (Autor)
• Formato: Livro
• Publicado em: Nicolaus Copernicus University in Toruń, 2024-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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....