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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.

 

Artículos científicos

Background: The basal nuclei (basal ganglia) are functional part of the extrapyramidal system. They are associated with involuntary movements coordination, cognitive functions, and emotional reactions. The main components of basal ganglia are: caudate nucleus, putamen, nucleus accumbens, globus pallidus, lenticular nucleus, and substantia nigra. The...

Glutaric aciduria type 1 is a cerebral organic acid disorder caused by glutaryl-CoA dehydrogenase deficiency. Early detection by Expanded Newborn Screening Program (NBS) combined with guidelines for treatment and follow-up, have significantly improved neurological outcome. Methods: Retrospective cohort of GA-1 patients followed in a Portuguese Metabolic...

Objectives: To improve the identification of glutarylcarnitine at low concentrations in routine profiling of acylcarnitines by LC-MS/MS. This is important for detecting low-excretor variants of glutaryl-CoA dedrogenase deficiency (GA-1) and in multiple acyl-CoA dehydrogenase deficiency (MADD), but can be problematic due to isobaric interferences. Method: Alongside...

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