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

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 comple...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5214431/
https://ncbi.nlm.nih.gov/pubmed/26750748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2015.12.009
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