Wilson disease (WD) is an autosomal-recessive disorder of hepatocellular copper
deposition caused by pathogenic variants in the copper-transporting gene, ATP7B. Early …

Wilson's disease (WD) is an inborn error of copper metabolism caused by a mutation to the
copper-transporting gene ATP7B. The disease has an autosomal recessive mode of …

Background: Wilson's disease is a rare inborn disease related to copper storage, leading to
liver cirrhosis and neuropsychological deterioration. Clinical data on larger cohorts are …

Wilson disease is an autosomal recessive inherited disorder of copper metabolism. The
Wilson disease gene codes for a copper transporting P-type ATPase (ATP7B). Molecular …

Clinical practice guidelines for Wilson's disease (WD) have been published by the American
Association for the Study of Liver Diseases and European Association for the Study of the …

Wilson disease is a rare, inherited autosomal recessive disease of copper metabolism and
may be more common where consanguinity is prevalent. Much has been known about the …

Context: Geographic distribution of ATP7B mutations in different populations. Objective: To
summarise common mutations in the ATP7B gene and graphically illustrate their prevalence …

Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the
defective biliary excretion of copper. The subsequent gradual accumulation of copper in …

Copper is an essential nutrient required for normal growth and development in many
organisms. In humans, the disruption of normal copper absorption and excretion is …

Wilson's disease (WD) is an inherited disease caused by mutations in ATP7B and is
characterized by the pathological accumulation of copper in the liver and brain. Common …