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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.

 

cribado neonatal Tag

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...

Background: Accumulation of 3-hydroxyglutaric acid (3HGA) in body fluids is pathognomonic for type 1 Glutaric Aciduria (GA1). To date, methods for quantification of 3HGA mainly involve complex analyses using stable isotope dilution gas chromatography mass spectrometry (GC/MS). Here, we describe a simple liquid chromatography tandem...

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