Application of tandem mass spectrometry to biochemical genetics and newborn screening

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 data manipulation have allowed the introduction of expanded newborn screening...

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Detalles Bibliográficos
Autores principales: Carpenter, Kevin H., Wiley, Veronica
Formato: Working Paper
Lenguaje:Inglés
Publicado: Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas 2014
Materias:
Tandem mass spectrometry
Newborn screening
examen neonatal
Tandem espectrometría de masas
Acceso en línea:http://repositorio.ub.edu.ar/handle/123456789/2834
Aporte de:
Repositorio Institucional - Universidad de Belgrano (UB) de Universidad de Belgrano
id I36-R142-123456789-2834
record_format dspace
institution Universidad de Belgrano
institution_str I-36
repository_str R-142
collection Repositorio Institucional - Universidad de Belgrano (UB)
language Inglés
topic Tandem mass spectrometry
Newborn screening
examen neonatal
Tandem espectrometría de masas
spellingShingle Tandem mass spectrometry
Newborn screening
examen neonatal
Tandem espectrometría de masas
Carpenter, Kevin H.
Wiley, Veronica
Application of tandem mass spectrometry to biochemical genetics and newborn screening
topic_facet Tandem mass spectrometry
Newborn screening
examen neonatal
Tandem espectrometría de masas
description 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 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.
format Working Paper
author Carpenter, Kevin H.
Wiley, Veronica
author_facet Carpenter, Kevin H.
Wiley, Veronica
author_sort Carpenter, Kevin H.
title Application of tandem mass spectrometry to biochemical genetics and newborn screening
title_short Application of tandem mass spectrometry to biochemical genetics and newborn screening
title_full Application of tandem mass spectrometry to biochemical genetics and newborn screening
title_fullStr Application of tandem mass spectrometry to biochemical genetics and newborn screening
title_full_unstemmed Application of tandem mass spectrometry to biochemical genetics and newborn screening
title_sort application of tandem mass spectrometry to biochemical genetics and newborn screening
publisher Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
publishDate 2014
url http://repositorio.ub.edu.ar/handle/123456789/2834
work_keys_str_mv AT carpenterkevinh applicationoftandemmassspectrometrytobiochemicalgeneticsandnewbornscreening
AT wileyveronica applicationoftandemmassspectrometrytobiochemicalgeneticsandnewbornscreening
bdutipo_str Repositorios
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