ea0081ep58 | Adrenal and Cardiovascular Endocrinology | ECE2022
, Trandafir Laura-Mihaela
, Ungureanu Christina-Maria
, Frasinariu Otilia-Elena
, Vasiliu Ioana
Introduction: Zellweger Spectrum Disorders, one of the two groups of Peroxisome Biogenesis Disorders (PBD-ZSD) are rare, complex autosomal recessive genetic anomalies characterised by mutations in any of the PEX genes which are responsible for defective peroxisomes activity. The peroxisomes are organelles that play a primary role mainly in the lipid metabolism of almost all the cells of the body, hence their defective biosynthesis, assembly or biochemical functions turn PBD-ZS...