Wilson disease: the diagnostic challenge and treatment outcomes in a series of 262 cases

Abstract

Background Wilson disease (WD) is an autosomal recessive disorder that leads to organ toxicity due to copper overload. Early diagnosis is complicated by the rarity and diversity of manifestations.

Keywords

• Hepatolenticular Degeneration
• Copper-Transporting ATPases
• Movement Disorders
• Penicillamine
• Liver Cirrhosis
• Degeneração Hepatolenticular
• ATPases Transportadoras de Cobre
• Transtornos dos Movimentos
• Penicilamina
• Cirrose Hepática