Peer-reviewed veterinary case report
Tandem mass spectrometry in discovery of disorders of the metabolome.
- Journal:
- The Journal of clinical investigation
- Year:
- 2004
- Authors:
- Strauss, Arnold W
- Affiliation:
- Department of Pediatrics · United States
- Species:
- rodent
Abstract
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.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/14755332/