Sökning: "hepatolenticular degeneration"

Hittade 1 avhandling innehållade orden hepatolenticular degeneration.

1. 1. Genetical and Clinical Studies in Wilson's Disease

   Författare :Erik Waldenström; Kerstin Westermark; Ulf Landegren; Ann-Christine Syvänen; Peter Ferenci; Uppsala universitet; []
   Nyckelord :Internal medicine; copper radioisotopes; DNA sequence analyses; genotype; hepatolenticular degeneration; neoplasms; phenotype; positron-emission tomography; psychopathology; Invärtesmedicin;

   Sammanfattning : Wilson’s disease is a rare inborn error of metabolism caused by a defect in ATP7B, a protein necessary for proper copper excretion into bile. It is characterised by copper accumulation with hepatic and central nervous system dysfunction. LÄS MER