Asociación sin ánimo de lucro, inscrita en el Registro Nacional de Asociaciones con el número 613.620. Pertenece a FEDER, Federación Española de Enfermedades Raras que une a toda la comunidad de familias con enfermedades poco frecuentes en España; y a FEEHM, Federación Española de Enfermedades Metabólicas Hereditarias.
Pathogenesis of brain damage in glutaric acidemia type I Lessons from the genetic mice model 2019...
Increased susceptibility to quinolinic acid-induced seizures and long term changes in brain oscillations in an animal model of glutaric acidemia type I 2021...
Expanded Newborn Screening. Six-year experience in a single centre 2018 pag 76...
Expanded Newborn Screening. Six-year experience in a single centre 2018 pag 76...
Glutaric acidemia I (GAI) is a neurometabolic disease characterized by brain accumulation of glutaric acid (GA) and related metabolites and acute degeneration of striatal neurons through still unknown mechanisms. We investigated whether astrocytes from the Gcdh−/− mice submitted to lysine (Lys) or GA overload may...
Background: The role of glial cells in glutaric acidemia I (GA-I) pathogenesis is mostly unknown. Objectives: We evaluated the effects of pathophysiological concentrations of glutaric acid (GA) and lysine on glial cells from the glutaryl-CoA dehydrogenase (GCDH) knockout (KO) mouse model. Methods: Functional and morphological parameters were...
Background: The pathogenesis of the brain damage in glutaric acidemia type I (GA I) is not well understood. Objectives: Relevant oxidative stress parameters were investigated in cerebral cortex, striatum, hippocampus, liver and heart of 30-day-old knockout mice with glutaryl-CoA dehydrogenase deficiency (Gcdh −/−) and in...
TOXIC SYNERGISM BETWEEN QUINOLINIC ACID AND ORGANIC ACIDS ACCUMULATING IN GLUTARIC ACIDEMIA TYPE I AND IN DISORDERS OF PROPIONATE METABOLISM IN RAT BRAIN SYNAPTOSOMES: RELEVANCE FOR METABOLIC ACIDEMIAS 2015...
Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase defificient mice: A possible mechanism for brain injury in glutaric aciduria type I ...
418 - Striatum Histopathological Alterations Provoked by Acute Lysine Administration in Glutaryl-CoA Dehydrogenase Deficient Mice 2013...
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