Peroxisome Biogenesis Disorder (PBD): Types 1-14, A (Zellweger) and B
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1781-1
Reference17 articles.
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2. Braverman NE et al (2016) Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab 117:313–321. https://doi.org/10.1016/j.ymgme.2015.12.009
3. Brites P et al (2011) Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice. PLoS One 6:e28539. https://doi.org/10.1371/journal.pone.0028539
4. Dranchak PK, Di Pietro E, Snowden A, Oesch N, Braverman NE, Steinberg SJ, Hacia JG (2011) Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. J Cell Biochem 112:1250–1258
5. Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR (2011) Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat 32:59–69. https://doi.org/10.1002/humu.21388
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