Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride

Charles R. Roe, Lawrence Sweetman, Diane S. Roe, +2

Journal of Clinical Investigation

NutritionHeart FailureAnaplerotic Odd-chain TriglycerideMetabolic DisorderMetabolic Syndrome +17

Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride

Charles R. Roe, Lawrence Sweetman, Diane S. Roe, +2

Journal of Clinical Investigation

NutritionHeart FailureAnaplerotic Odd-chain TriglycerideMetabolic DisorderMetabolic Syndrome +17

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

David S. Millington, Naoki Kodo, Naoto Terada, +2

International Journal of Mass Spectrometry and Ion Processes

Genetic TestingEngineeringMedicineGeneticsBioanalysis +12

Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts

Nanda M. Verhoeven, Diane S. Roe, Ronald J. A. Wanders, +2

Journal of Lipid Research

2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism

K. Michael Gibson, T. Burlingame, Boris M. Hogema, +13

Pediatric Research

BiosynthesisAldehyde DehydrogenaseBiochemistryDehydrogenase DeficiencyGenetics +9

Carnitine palmitoyltransferase II deficiency

Charles R. Roe, B-Z Yang, Henri Brunengraber, +3

Neurology

Isolated Isobutyryl-CoA Dehydrogenase Deficiency: An Unrecognized Defect in Human Valine Metabolism

Charles R. Roe, Stephen D. Cederbaum, Diane S. Roe, +3

Molecular Genetics and Metabolism

Unrecognized DefectAldehyde DehydrogenaseBiochemistryIsobutyryl-coa Dehydrogenase DeficiencyMedicine +9

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

Nguyễn Văn Tiến, Brage Storstein Andresen, Thomas J. Corydon, +8

Molecular Genetics and Metabolism

Aldehyde DehydrogenaseBiochemistryMedicineGeneticsMetabolomics +5

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

Christina B. Pedersen, Claus Bischoff, Ernst Christensen, +14

Pediatric Research

PediatricsClinical ChemistryMetabolomicsMedicineElevated C4-carnitine Detected

Evidence for a Short-Chain Carnitine–Acylcarnitine Translocase in Mitochondria Specifically Related to the Metabolism of Branched-Chain Amino Acids

Diane S. Roe, Charles R. Roe, M. Brivet, +1

Molecular Genetics and Metabolism

BiosynthesisAldo-keto ReductaseMitochondrial FunctionBiochemistryNatural Sciences +6