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...
Guardado en:
| Autores principales: | , |
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| Formato: | Working Paper |
| Lenguaje: | Inglés |
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Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
2014
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| Acceso en línea: | http://repositorio.ub.edu.ar/handle/123456789/2834 |
| Aporte de: |
| Sumario: | 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. |
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