Wilson's disease (WD) is a disorder of copper metabolism leading to copper accumulation in the liver and in extrahepatic organs, such as brain and cornea. We present a patient with liver disease who did not fulfil the biochemical criteria for WD. Mutational analysis was necessary to make the diagnosis and show a new mutation. Our case supports the use of mutation analysis in cases with unclear liver disease and suggests that the spectrum of WD is broader than currently assumed
Wilson disease is an autosomal recessive copper storage disease. It is characterized by an inability...
Background Wilson disease (WD) is an autosomal recessive disorder of hepatic copper excretion. About...
Wilson's disease (WD) is an autosomal recessive disorder, resulting from variations in ATP7B gene. C...
Contains fulltext : 69469.pdf (publisher's version ) (Open Access)Wilson's disease...
Wilson disease (WND) is an autosomal recessive disorder caused by mutation in ATP7B gene that impair...
Wilson disease is an inherited autosomal recessive disorder of hepatic copper metabolism leading to ...
WOS: 000360663100023Wilson disease (WD) is an autosomal recessive disorder of copper transport cause...
SummaryWilson disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of...
In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal...
Wilson disease (WD), an inborn error of copper metabolism, is inherited in an autosomal recessive ma...
Wilson disease is an autosomal recessive copper storage disease. It is characterized by an inability...
Wilson’s disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the...
Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused b...
In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal...
Wilson disease (WD) is an inherited disorder of hepatic copper metabolism with considerable variatio...
Wilson disease is an autosomal recessive copper storage disease. It is characterized by an inability...
Background Wilson disease (WD) is an autosomal recessive disorder of hepatic copper excretion. About...
Wilson's disease (WD) is an autosomal recessive disorder, resulting from variations in ATP7B gene. C...
Contains fulltext : 69469.pdf (publisher's version ) (Open Access)Wilson's disease...
Wilson disease (WND) is an autosomal recessive disorder caused by mutation in ATP7B gene that impair...
Wilson disease is an inherited autosomal recessive disorder of hepatic copper metabolism leading to ...
WOS: 000360663100023Wilson disease (WD) is an autosomal recessive disorder of copper transport cause...
SummaryWilson disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of...
In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal...
Wilson disease (WD), an inborn error of copper metabolism, is inherited in an autosomal recessive ma...
Wilson disease is an autosomal recessive copper storage disease. It is characterized by an inability...
Wilson’s disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the...
Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused b...
In 3 children with chronic liver disease, although multiple studies of copper metabolism were normal...
Wilson disease (WD) is an inherited disorder of hepatic copper metabolism with considerable variatio...
Wilson disease is an autosomal recessive copper storage disease. It is characterized by an inability...
Background Wilson disease (WD) is an autosomal recessive disorder of hepatic copper excretion. About...
Wilson's disease (WD) is an autosomal recessive disorder, resulting from variations in ATP7B gene. C...