Tandem mass spectrometry in discovery of disorders of the metabolome
AUTOR(ES)
Strauss, Arnold W.
FONTE
American Society for Clinical Investigation
RESUMO
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 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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=324547Documentos Relacionados
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