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Tandem mass spectrometry in discovery of disorders of the metabolome
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 gene...
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| Autor principal: | |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2004
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC324547/ https://ncbi.nlm.nih.gov/pubmed/14755332 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200420924 |
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