Sökning: "Kalliopi Sofou"

Hittade 1 avhandling innehållade orden Kalliopi Sofou.

  1. 1. Genotypic and phenotypic spectrum of mitochondrial diseases with focus on early onset mitochondrial encephalopathies

    Författare :Kalliopi Sofou; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mitochondrial diseases; mitochondrial encephalopathy; Alpers syndrome; Leigh syndrome; neuroimaging; whole exome sequencing;

    Sammanfattning : Early-onset mitochondrial encephalopathies comprise a challenging group of neurodegenerative disorders. This is due to their progressive nature, often leading to major disability and premature death, as well as their diagnostic complexity and lack of customized treatments. LÄS MER