Genetic testing for Wilson disease: availability and utility.

Abstract excerpt

Wilson disease, a genetic disorder of copper metabolism, presents typically in the second and third decades of life with hepatic or neuropsychiatric disease. Clinical presentations often vary depending on age and degree of onset; although clinical and biochemical testing can usually establish a diagnosis, the data are difficult to interpret in some patients. Correctly identifying patients from nonaffected...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adenosine Triphosphatases
• Share to Cation Transport Proteins
• Share to Copper