Document Detail

Application of tandem mass spectrometry to biochemical genetics and newborn screening.
MedLine Citation:
PMID:  12104075     Owner:  NLM     Status:  MEDLINE    
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.
Kevin H Carpenter; Veronica Wiley
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Clinica chimica acta; international journal of clinical chemistry     Volume:  322     ISSN:  0009-8981     ISO Abbreviation:  Clin. Chim. Acta     Publication Date:  2002 Aug 
Date Detail:
Created Date:  2002-07-09     Completed Date:  2002-10-11     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  1302422     Medline TA:  Clin Chim Acta     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  1-10     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Elsevier Science B.V.
New South Wales Biochemical Genetics, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Sydney, Australia.
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MeSH Terms
Amino Acids / analysis
Carnitine / analogs & derivatives*,  analysis
Genetic Testing / methods*
Infant, Newborn
Molecular Biology / methods*
Neonatal Screening / methods*
Peroxisomal Disorders / diagnosis,  genetics,  metabolism
Spectrometry, Mass, Electrospray Ionization / methods*
Reg. No./Substance:
0/Amino Acids; 0/acylcarnitine; 541-15-1/Carnitine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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