A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease with Liver Failure.
ACG CASE REPORTS JOURNAL(2023)
摘要
ABSTRACT Wilson disease is a hereditary disorder which involves anomalous copper metabolism. Typically, the presentation is systemic, involving vital organs such as the liver, kidney, and brain, among others. We report a unique case presenting with solitary organ involvement as acute liver failure with novel ATP7B gene mutation, which has never been reported before.
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关键词
Inborn Errors of Metabolism
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