1-Propanaminium, 3-carboxy-2-(4-carboxy-1-oxobutoxy)-N,N,N-trimethyl-, inner salt, (2R)-
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An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1. | Journal of inherited metabolic disease 20120501 |
Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I. | Brain : a journal of neurology 20110101 |
Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry. | Clinica chimica acta; international journal of clinical chemistry 20100502 |
False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency. | Journal of inherited metabolic disease 20091201 |
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 of chromatography. B, Analytical technologies in the biomedical and life sciences 20090901 |
Maternal glutaric acidemia, type I identified by newborn screening. | Molecular genetics and metabolism 20080501 |
Neonatal screening for glutaric aciduria type I: strategies to proceed. | Journal of inherited metabolic disease 20060101 |
Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed. | Molecular genetics and metabolism 20051101 |
The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. | Molecular genetics and metabolism 20050201 |
Genetic and biochemical study in a patient with glutaric acidemia type I. | Journal of the Formosan Medical Association = Taiwan yi zhi 20040701 |
Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening. | Journal of inherited metabolic disease 20040101 |
Stability of malonylcarnitine and glutarylcarnitine in stored blood spots. | Journal of inherited metabolic disease 20040101 |
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. | Neuropediatrics 20030601 |