Sökning: "Alpers-Huttenlocher syndrome"

Hittade 1 avhandling innehållade orden Alpers-Huttenlocher syndrome.

  1. 1. Crisis in Energy Metabolism - Mitochondrial Defects and a New Disease Entity

    Författare :Gittan Kollberg; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Energy metabolism; Mitochondrial Disorders; mtDNA; multiple mtDNA deletions; Alpers-Huttenlocher syndrome; POLG1; GYS1; glycogen synthase; point mutation; Polymerase gamma;

    Sammanfattning : Impairment of energy metabolism may be associated with severe implications for affected individuals since all fundamental cell functions are energy-dependent. Disorders of energy metabolism are often genetic and associated with defects in the oxidative phosphorylation in mitochondria. LÄS MER