Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening
暂无分享,去创建一个
[1] V. Wiley,et al. Application of tandem mass spectrometry to biochemical genetics and newborn screening. , 2002, Clinica chimica acta; international journal of clinical chemistry.
[2] B. Wilcken,et al. Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies , 2001, Archives of disease in childhood. Fetal and neonatal edition.
[3] I Knudsen,et al. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. , 2001, American journal of human genetics.
[4] B. Wilcken,et al. Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia , 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.
[5] D. Chace,et al. Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism , 1999, Journal of child neurology.
[6] M. Vincent,et al. Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency , 1999, Journal of Inherited Metabolic Disease.
[7] M. Morris,et al. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry , 1998, Archives of disease in childhood.
[8] P. Ozand. Diagnosis of inborn errors of metabolism by tandem mass spectrometry. , 1998, Annals of Saudi medicine.
[9] M. Vincent,et al. Identification of new medium-chain acylcarnitines present in normal human urine. , 1997, Analytical biochemistry.
[10] M. Jacob,et al. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. , 1997, Clinical chemistry.
[11] J. Pitt,et al. Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency , 1993, Journal of Inherited Metabolic Disease.
[12] D. Kerr,et al. Abnormal urinary excretion of unsaturated dicarboxylic acids in patients with medium-chain acyl-CoA dehydrogenase deficiency. , 1990, Journal of lipid research.
[13] J. O’Shea,et al. Stable isotope dilution analysis of n-hexanoylglycine, 3-phenylpropionylglycine and suberylglycine in human urine using chemical ionization gas chromatography/mass spectrometry selected ion monitoring. , 1989, Biomedical & environmental mass spectrometry.
[14] D. Chace,et al. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. , 2002, Annual review of genomics and human genetics.
[15] O. Linderkamp,et al. Postnatal Changes in Neonatal Acylcarnitine Profile , 2001, Pediatric Research.
[16] O. Mamer,et al. Episodic hypoglycemia with psi-hydroxy fatty acid excretion. , 1983, Pediatric research.