An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1
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[1] D. Chace,et al. Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry. , 2010, Clinica chimica acta; international journal of clinical chemistry.
[2] J. Christodoulou,et al. Glutaric aciduria type I: outcome following detection by newborn screening , 2008, Journal of Inherited Metabolic Disease.
[3] Piero Rinaldo,et al. Acylcarnitine profile analysis , 2008, Genetics in Medicine.
[4] J. Zschocke,et al. Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany , 2007, Pediatric Research.
[5] S. Waisbren,et al. Expanded Newborn Screening for Biochemical Disorders: The Effect of a False-Positive Result , 2006, Pediatrics.
[6] G. Enns,et al. Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed. , 2005, Molecular genetics and metabolism.
[7] A. Ribes,et al. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency , 2004, Journal of Inherited Metabolic Disease.
[8] J. Pitt,et al. Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening , 2004, Journal of Inherited Metabolic Disease.
[9] E. Treacy,et al. Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype , 2003, Journal of Inherited Metabolic Disease.
[10] D. Chace,et al. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. , 2003, Clinical chemistry.
[11] E. Puffenberger,et al. Type I glutaric aciduria, part 1: Natural history of 77 patients , 2003, American journal of medical genetics. Part C, Seminars in medical genetics.
[12] K. Strauss,et al. Type I glutaric aciduria, part 2: A model of acute striatal necrosis , 2003, American journal of medical genetics. Part C, Seminars in medical genetics.
[13] M. Bennett,et al. The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry. , 2002, Clinica chimica acta; international journal of clinical chemistry.
[14] D. Millington,et al. Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. , 2001, Pediatrics.
[15] M. Orozco,et al. Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct , 2000, Pediatric Research.
[16] M. Bennett,et al. Improved Stable Isotope Dilution-Gas Chromatography-Mass Spectrometry Method for Serum or Plasma Free 3-Hydroxy-Fatty Acids and Its Utility for the Study of Disorders of Mitochondrial Fatty Acid β-Oxidation , 2000 .
[17] C E Hop,et al. Integrating qualitative and quantitative liquid chromatography/tandem mass spectrometric analysis to support drug discovery. , 1999, Rapid communications in mass spectrometry : RCM.
[18] D. Morton,et al. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. , 1996, American journal of human genetics.