Article
ATP7B Genotype and Chronic Liver Disease Treatment Outcomes in Wilson Disease: Worse Survival With Loss-of-Function Variants.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association - 1 May 2023
Nayagam Jeremy S, Jeyaraj Rebecca, Foskett Pierre, Dhawan Anil, Ala Aftab, Joshi Deepak, Bomford Adrian, Thompson Richard J
Abstract excerpt
BACKGROUND AND AIMS: Although a good genotype-phenotype correlation has not been established in Wilson disease (WD), patients with loss-of-function (LOF) ATP7B variants demonstrate different clinical and biochemical characteristics. We aim to describe long-term treatment outcomes in the chronic liver disease (CLD) phenotype and evaluate an association with LOF variants. METHODS: This was a single-center...
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