Document Detail

Tandem mass spectrometry in discovery of disorders of the metabolome.
MedLine Citation:
PMID:  14755332     Owner:  NLM     Status:  MEDLINE    
Genetic disorders of amino acid and fatty acid metabolism can be detected with tandem mass spectrometry (MS/MS). MS/MS screening of mice subjected to chemical mutagenesis (see the related article beginning on page 434) defined a new disorder of branched-chain amino acid metabolism resembling human maple syrup urine disease. This approach has general application to the discovery of gene function in developmental and metabolic disorders.
Arnold W Strauss
Publication Detail:
Type:  Comment; Journal Article    
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  113     ISSN:  0021-9738     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  2004 Feb 
Date Detail:
Created Date:  2004-02-02     Completed Date:  2004-03-16     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  United States    
Other Details:
Languages:  eng     Pagination:  354-6     Citation Subset:  AIM; IM    
Department of Pediatrics, Vanderbilt Children's Hospital, Vanderbilt University, Nashville, Tennessee 37232, USA.
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MeSH Terms
Chemistry Techniques, Analytical*
Disease Models, Animal
Mass Spectrometry
Metabolism, Inborn Errors / diagnosis*,  genetics
Zebrafish / genetics,  metabolism
Comment On:
J Clin Invest. 2004 Feb;113(3):434-40   [PMID:  14755340 ]

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

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