ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Reference26 articles.
1. The future is function
2. The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry
3. Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/ mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue
4. Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
5. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry
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