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degenerácia hepatolentikulárna

  1. Subject h.degenerácia hepatolentikulárna
    Subject h.Hepatolenticular Degeneration
    Entry termsWilsonova choroba
    pseudoskleróza cerebrálna
    degenerácia neurohepatická
    pseudoskleróza
    English X referencesCerebral Pseudosclerosis
    Neurohepatic Degeneration
    Pseudosclerosis
    Wilson Disease
    Scope note in EnglishA 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.
    See also reference (FX) in Slovak ATPázy transportujúce meď
    See also reference (FX) in English Copper-Transporting ATPases
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