Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

NE Braverman, GV Raymond, WB Rizzo… - Molecular genetics and …, 2016 - Elsevier
Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a
heterogeneous group of genetic disorders caused by mutations in PEX genes responsible
for normal peroxisome assembly and functions. As a result of impaired peroxisomal
activities, individuals with PBD-ZSD can manifest a complex spectrum of clinical phenotypes
that typically result in shortened life spans. The extreme variability in disease manifestation
ranging from onset of profound neurologic symptoms in newborns to progressive …