Lourdes R. Desviat
Universidad Autonoma de Madrid Facultad de Ciencias
131 papers found
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Novel features in the evolution of adenylosuccinate lyase deficiency
Download from digital.csic.esFeasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia
Download from digital.csic.esMinigenes to Confirm Exon Skipping Mutations
Download from digital.csic.esPseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency
Download from www.researchgate.netPresent and future of antisense therapy for splicing modulation in inherited metabolic disease
Download from onlinelibrary.wiley.comFunctional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type
Download from www.ncbi.nlm.nih.govThe molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America
Download from www.researchgate.netStudy of inborn errors of metabolism in urine from patients with unexplained mental retardation
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