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Chemical chaperones improve peroxisomal biogenesis in fibroblasts of mild Zellweger syndrome spectrum patients

✍ Scribed by Kevin Berendse, Merel S. Ebberink, Lodewijk IJlst…


Book ID
120904696
Publisher
Bohn Stafleu van Loghum
Year
2013
Tongue
Dutch
Weight
58 KB
Volume
81
Category
Article
ISSN
0376-7442

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Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive neurodegenerative disorders that affect multiple organ systems. Approximately 80% of PBD patients are classified in the Zellweger syndrome spectrum (PBD-ZSS). Mutations in the PEX1, PEX6, PEX10, PEX12, or PEX26 ge