Michael Schilsky

All articles by Michael Schilsky

Hereditary hemochromatosis

How can I be sure that the patient has Wilson disease? Overview Wilson disease (WD) is an autosomal recessive disorder that results from mutations in the ATP7B gene located on the long arm of chromosome 13. More than 500 mutations have been identified. ATP7B protein is responsible for both hepatic copper incorporation into ceruloplasmin and…

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