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Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias
BACKGROUND: Classical organic acidurias including methylmalonic aciduria (MMA), propionic aciduria (PA) and isovaleric aciduria (IVA) are severe inborn errors of the catabolism of branched-chain amino acids and odd-numbered chain fatty acids, presenting with severe complications. METHODS: This study...
Autores principales: | Nizon, Mathilde, Ottolenghi, Chris, Valayannopoulos, Vassili, Arnoux, Jean-Baptiste, Barbier, Valérie, Habarou, Florence, Desguerre, Isabelle, Boddaert, Nathalie, Bonnefont, Jean-Paul, Acquaviva, Cécile, Benoist, Jean-François, Rabier, Daniel, Touati, Guy, de Lonlay, Pascale |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016503/ https://www.ncbi.nlm.nih.gov/pubmed/24059531 http://dx.doi.org/10.1186/1750-1172-8-148 |
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