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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Detalhes bibliográficos
Main Authors: Thompson, Sian A, Calvin, Jacqui, Hogg, Sarah, Ferdinandusse, Sacha, Wanders, Ronald J A, Barker, Roger A
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2009
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Article
Acesso em linha: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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