Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease

Frontiers in Pediatrics

Sarah Guttmann¹ 

关键词: delay of diagnosis;    copper;    neuropsychiatric;    WD scoring;    rare disease;    cell model;   

DOI  :  10.3389/fped.2018.00106

学科分类：儿科学

来源: Frontiers

【 摘 要 】

Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children having mild symptoms.

【 授权许可】

CC BY