Heptolenticular Degeneration
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1. Cupriuresis in parents of patients with Wilson disease before and after oral intake of d-penicillamine / Cuprúria em pais de pacientes com doença de Wilson antes e depois da administração oral de d-penicilamina
Wilson disease is a biliary copper excretion disturbance, of recessive autossomic heritage, due to ATP7B gene mutations. The copper not bound to apoceruloplasmin circulates in the organism bound to amino acids and accumulates mainly in the liver and brain being excreted by the kidneys. Urinary copper higher than 100ug/24h can be useful in the diagnosis, but
Publicado em: 2007