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Clin Chim Acta. 2002 Aug;322(1-2):1-10.

Application of tandem mass spectrometry to biochemical genetics and newborn screening.

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New South Wales Biochemical Genetics, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Sydney, Australia.


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 particular beta-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.

[Indexed for MEDLINE]

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