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Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency
α-Methylacyl-CoA racemase (AMACR) deficiency is a rare disorder of fatty acid metabolism which has recently been described in three adult cases. We have identified a further patient with clinical features of a relapsing encephalopathy, seizures and cognitive decline over a 40 year period. Biochemica...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3028295/ https://ncbi.nlm.nih.gov/pubmed/21686617 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.08.2008.0814 |
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