Article
Wilson disease: the diagnostic challenge and treatment outcomes in a series of 262 cases.
Arquivos de neuro-psiquiatria - 1 May 2024
Deguti Marta Mitiko, Araujo Fabiana Cordeiro, Terrabuio Débora Raquel Benedita, Araujo Thiago Ferreira, Barbosa Egberto Reis, Porta Gilda, Cançado Eduardo Luiz Rachid
Abstract excerpt
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. OBJECTIVE: To describe the diagnostic features and response to treatment in our cohort of WD patients. METHODS: This was a retrospective analysis of 262 WD patients stratified by clinical presentation, complementary...
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