Ara
Toplam kayıt 2, listelenen: 1-2
Chanarin Dorfman Syndrome: A Case Report
(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 ...
Recurrent N209* ABHD5 Mutation In Two Unreported Families With Chanarin Dorfman Syndrome
(2021)
ABHD5 protein is widely involved in lipid and energy homeostasis. Mutations in the ABHD5 gene are associated with the onset of Neutral Lipid Storage Disease with Ichthyosis (NLSDI), historically known as Chanarin Dorfman ...