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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Metab
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2015
Aiheet:
Article
Linkit: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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