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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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| Autors principals: | , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
National Academy of Sciences
2008
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| Matèries: | |
| Accés en línia: | 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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