Now showing items 1-2 of 2

    • Chanarin Dorfman Syndrome: A Case Report 

      Ozkale, Yasemin; Erol, Ilknur; Canan, Oguz; Durdu, Murat (2015)
      Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's ...
    • Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents 

      Durdu, Murat; Missaglia, Sara; Moro, Laura; Tavian, Dainela (2018)
      Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, ...