Application of tandem mass spectrometry to biochemical genetics and newborn screening

dc.creatorCarpenter, Kevin H.
dc.creatorWiley, Veronica
dc.date.accessioned2014-08-04T18:42:15Z
dc.date.accessioned2022-11-09T15:00:42Z
dc.date.available2014-08-04T18:42:15Z
dc.date.available2022-11-09T15:00:42Z
dc.date.created2014-08-04T18:42:15Z
dc.date.issued2002
dc.identifierhttp://repositorio.ub.edu.ar/handle/123456789/2834
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/5168040
dc.description.abstractTandem 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 data manipulation have allowed the introduction of expanded newborn screening for disorders which feature accumulation of acylcarnitines and certain amino acids in a number of programs worldwide. In addition, the technique has proven valuable in several areas of biochemical genetics including quantification of carnitine and acylcarnitines, in vitro studies of metabolic pathways (in particularh-oxidation), and diagnosis of peroxisomal and lysosomal disorders. This review covers some of the basic theory of MS/MS and focuses on the practical application of the technique in these two interrelated areas.D2002 Elsevier Science B.V. All rights reserved.
dc.languageen
dc.publisherUniversidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
dc.relationClinica Chimica Acta 322;year 2002 1–10
dc.subjectTandem mass spectrometry
dc.subjectNewborn screening
dc.subjectexamen neonatal
dc.subjectTandem espectrometría de masas
dc.titleApplication of tandem mass spectrometry to biochemical genetics and newborn screening
dc.typeDocumentos de trabajo


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