Article
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Molecular genetics and metabolism - 1 Mar 2016
Braverman Nancy E, Raymond Gerald V, Rizzo William B, Moser Ann B, Wilkinson Mark E, Stone Edwin M, Steinberg Steven J, Wangler Michael F, Rush Eric T, Hacia Joseph G, Bose Mousumi
Abstract excerpt
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...
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