Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

Refsum disease is caused by a deficiency of phytanoyl-CoA hydroxylase (PHYH), the first enzyme of the peroxisomal α-oxidation system, resulting in the accumulation of the branched-chain fatty acid phytanic acid. The main clinical symptoms are polyneuropathy, cerebellar ataxia, and retinitis pigmento...

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Detalhes bibliográficos
Main Authors: Ferdinandusse, Sacha, Zomer, Anna W. M., Komen, Jasper C., van den Brink, Christina E., Thanos, Melissa, Hamers, Frank P. T., Wanders, Ronald J. A., van der Saag, Paul T., Poll-The, Bwee Tien, Brites, Pedro
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2008
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2584743/
https://ncbi.nlm.nih.gov/pubmed/19004801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0806066105
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