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

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Untitled

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Genome-wide, large-scale production of mutant mice by ENU mutagenesis

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A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

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Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

1990 • 552 citations

Amino acid transporters: roles in amino acid sensing and signalling in animal cells

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Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry

1995 • 334 citations

Maple syrup urine disease (branched-chain ketoaciduria)

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Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry

1995 • 222 citations

Neutral amino acid transport. Characterization of the A and L systems in isolated rat hepatocytes.

1977 • 216 citations

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

1989 • 197 citations

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

1993 • 172 citations

The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry

1991 • 141 citations

Diagnostic and Therapeutic Implications of Medium-Chain Acylcarnitines in the Medium-Chain Acyl-CoA Dehydrogenase Deficiency

1985 • 129 citations

Overexpression and Characterization of the Human Mitochondrial and Cytosolic Branched-chain Aminotransferases

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The future is function

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Determination of Branched-Chain α-Keto Acid Dehydrogenase Activity State and Branched-Chain α-Keto Acid Dehydrogenase Kinase Activity and Protein in Mammalian Tissues

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A continuous 96-well plate spectrophotometric assay for branched-chain amino acid aminotransferases

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Identification of the mitochondrial branched chain aminotransferase as a branched chain alpha-keto acid transport protein.

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Alloisoleucine Formation in Maple Syrup Urine Disease: Isotopic Evidence for the Mechanism

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The Relationship between the Branched Chain Amino Acids and Their α-Ketoacids in Maple Syrup Urine Disease

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The biochemical metabolite screen in the Munich ENU Mouse Mutagenesis Project: determination of amino acids and acylcarnitines by tandem mass spectrometry

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Molecular Cloning and Characterization of Placental Tissue Protein 18 (PP18a)/Human Mitochondrial Branched-chain Aminotransferase (BCATm) and its Novel Alternatively Spliced PP18b Variant

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Use of sulfhydryl reagents to investigate branched chain α-keto acid transport in mitochondria

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