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ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease

Tandem mass spectrometry was applied to detect derangements in the pathways of amino acid and fatty acid metabolism in N-ethyl-N-nitrosourea–treated (ENU-treated) mice. We identified mice with marked elevation of blood branched-chain amino acids (BCAAs), ketoaciduria, and clinical features resemblin...

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Bibliografische gegevens
Hoofdauteurs: Wu, Jer-Yuarn, Kao, Hsiao-Jung, Li, Sing-Chung, Stevens, Robert, Hillman, Steven, Millington, David, Chen, Yuan-Tsong
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Clinical Investigation 2004
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC324540/
https://ncbi.nlm.nih.gov/pubmed/14755340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200419574
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