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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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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 |
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