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

@article{Braverman2016PeroxisomeBD,
  title={Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.},
  author={Nancy E. Braverman and G V Raymond and William B. Rizzo and Ann Moser and Mark Wilkinson and Edwin M. Stone and Steven Jeffrey Steinberg and Michael F Wangler and Eric T Rush and Joseph G. Hacia and Mousumi Bose},
  journal={Molecular genetics and metabolism},
  year={2016},
  volume={117 3},
  pages={313-21}
}
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… CONTINUE READING
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