Phenotypic and genetic characterization of children with Wilson Disease from Northeast China

Abstract Background Wilson disease (WD) is an autosomal recessive inherited disease caused by ATP7B variants and characterized by copper metabolism defects. However, children with WD are often asymptomatic, making the clinical diagnosis difficult. Therefore, more accurate methods are required for cl...

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Egile Nagusiak: Tianhe Zhang (Egilea), Wenliang Song (Egilea), Zhiqin Mao (Egilea)
Formatua: Liburua
Argitaratua: BMC, 2024-09-01T00:00:00Z.
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