Subject
Now showing items 1-4 of 4
-
Application of tandem mass spectrometry to biochemical genetics and newborn screening
(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 ... -
Tandem mass spectrometry in newborn screening
(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
(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 ... -
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2003)Background:Over the past decade laboratories that test for metabolic disorders have introduced tandem mass spectrometry (MS/MS), which is more sensitive, spe-cific, reliable, and comprehensive than traditional as-says, ...