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Now showing items 1-7 of 7

    • 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 ...

    • Application of Tandemmass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism. 

      Chace, Donald H.; Kalas, Theodore A.; Naylor, Edwin W. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
      This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making dried-blood spot analysis more sensitive, specific, reliable, and ...

    • Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism. 

      Naylor, Edwin W.; Chace, Donald H. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 1999)
      Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism.

    • Integration of New Genetic Diseases into Statewide Newborn Screening: New England Experience 

      Comeau, Anne Marie; Larson, Cecilia; Eaton, Roger B. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2004)
      Using a data set of newborn screening specimens tested by the New England Newborn Screening Program (NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn screening results ...

    • Newborn screening as a model for population screening 

      McCabe, Linda L.; McCabe, Edward R.B. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
      The incorporation of newborn screening into the states’ departments of public health represented the formal initiation of population-based predictive medi-cine with the goal of prevention of morbidityand mortalityfrom ...

    • 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.

    • Newborn screening: rationale for a comprehensive, fully integrated public health system 

      McCabe, Linda L.; Bradford L., Therrell Jr.; McCabe, Edward R.B. (Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2002)
      Newborn screening has existed for approximately four decades [1]. During that period of time, newborn screening has evolved conceptually from a laboratory test for a single disorder, phenylketonuria (PKU), to a multi-part ...