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MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation

BACKGROUND: Propionic acidaemia (PA) results from deficiency of Propionyl CoA carboxylase, the commonest form presenting in the neonatal period. Despite best current management, PA is associated with severe neurological sequelae, in particular movement disorders resulting from basal ganglia infarcti...

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Detalles Bibliográficos
Autores principales: Davison, James E, Davies, Nigel P, Wilson, Martin, Sun, Yu, Chakrapani, Anupam, McKiernan, Patrick J, Walter, John H, Gissen, P, Peet, Andrew C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113316/
https://www.ncbi.nlm.nih.gov/pubmed/21554693
http://dx.doi.org/10.1186/1750-1172-6-19