Title: An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.
Journal: Journal of inherited metabolic disease 20120501
Title: Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
Journal: Brain : a journal of neurology 20110101
Title: Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry.
Journal: Clinica chimica acta; international journal of clinical chemistry 20100502
Title: False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency.
Journal: Journal of inherited metabolic disease 20091201
Title: Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS).
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 20090901
Title: Maternal glutaric acidemia, type I identified by newborn screening.
Journal: Molecular genetics and metabolism 20080501
Title: Neonatal screening for glutaric aciduria type I: strategies to proceed.
Journal: Journal of inherited metabolic disease 20060101
Title: Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.
Journal: Molecular genetics and metabolism 20051101
Title: The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.
Journal: Molecular genetics and metabolism 20050201
Title: Genetic and biochemical study in a patient with glutaric acidemia type I.
Journal: Journal of the Formosan Medical Association = Taiwan yi zhi 20040701
Title: Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening.
Journal: Journal of inherited metabolic disease 20040101
Title: Stability of malonylcarnitine and glutarylcarnitine in stored blood spots.
Journal: Journal of inherited metabolic disease 20040101
Title: Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.
Journal: Neuropediatrics 20030601
