Wilson disease: the diagnostic challenge and treatment outcomes in a series of 262 cases
Marta Mitiko Deguti,
Fabiana Cordeiro Araujo,
Débora Raquel Benedita Terrabuio
et al.
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.
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 exams, ATP7B genotyping, and response to treatment.
Results Symptoms occur… Show more
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