Harvard Catalyst Profiles

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Hepatolenticular Degeneration

"Hepatolenticular Degeneration" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.


This graph shows the total number of publications written about "Hepatolenticular Degeneration" by people in Harvard Catalyst Profiles by year, and whether "Hepatolenticular Degeneration" was a major or minor topic of these publication.
Bar chart showing 36 publications over 24 distinct years, with a maximum of 3 publications in 1996 and 2015
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.