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Now showing items 1-4 of 4

    • Application of tandem mass spectrometry to biochemical genetics and newborn screening 

      Carpenter, Kevin H.; Wiley, Veronica (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
      Tandem mass spectrometry (MS/MS) has become a key technology in the fields of biochemical genetics and newborn screening. The development of electrospray ionisation (ESI) and associated automation of sample handling and ...

    • Newborn screening with tandem mass spectrometry: Examining its cost-effectiveness in the Wisconsin Newborn Screening Panel 

      Insinga, Ralph P.; Laessig, Ronald H.; Hoffman, Gary L. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
      Objective: To examine the cost-effectiveness of tandem mass spectrometry (MS/MS) in a neonatal screening panel for 14 fatty acid oxidation and organ-ic acidemia disorders in the Wisconsin Newborn Screening Program.

    • Tandem mass spectrometry in newborn screening 

      Charrow, Joel; Goodman, Stephen I.; McCabe, Edward R.G.; Rinaldo, Piero (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2000)
      Tandem mass spectrometry (MS/MS) has been used for sev-eral years to identify and measure carnitine esters in blood and urine of children suspected of having inborn errors of metab-olism. Indeed, acylcarnitine analysis ...

    • The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry 

      Jones, Patricia M.; Bennett, Michael J. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
      Technological advances are revolutionizing the way in which we can diagnose and screen whole popula-tions for inborn errors of metabolism. These advances are also necessitating a reevaluation of the spectrum of metabolic ...