Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.

Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme.

1985 • 217 citations

Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency: An Inherited Cause of Nonketotic Hypoglycemia

1985 • 203 citations

Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase.

1983 • 171 citations

Acyl-coenzyme A dehydrogenase from pig kidney. Purification and properties

1979 • 139 citations

Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with a Lipid-Storage Myopathy and Secondary Carnitine Deficiency

1984 • 133 citations

Genetic Deficiency of Medium-Chain Acyl Coenzyme A Dehydrogenase: Studies in Cultured Skin Fibroblasts and Peripheral Mononuclear Leukocytes

1985 • 116 citations

Complementation analysis of fatty acid oxidation disorders.

1987 • 113 citations

Dicarboxylic Aciduria: Deficient [1- ¹⁴ C]Octanoate Oxidation and Medium-Chain Acyl-CoA Dehydrogenase in Fibroblasts

1983 • 112 citations

Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

1978 • 110 citations

Ethylmalonic-Adipic Aciduria

1979 • 110 citations

Separation, properties, and regulation of acyl coenzyme A dehydrogenases from bovine heart and liver

1982 • 85 citations

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.

1986 • 57 citations

Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids

1985 • 47 citations

The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.

1985 • 40 citations

Novel tritium release assays for isovaleryl-CoA and butyryl-CoA dehydrogenases.

1981 • 35 citations

The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect

1985 • 30 citations

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.

1985 • 19 citations

Electron-transferring Flavoprotein Deficiency in the Multiple Acyl-CoA Dehydrogenation Disorders, Glutaric Aciduria Type II and Ethylmalonic—adipic Aciduria

1984 • 11 citations

14C-labeled substrate catabolism by human diploid fibroblasts derived from infants and adults

1985 • 9 citations

Prenatal detection of defects in propionate metabolism

1980 • 7 citations

The Diagnosis and Biochemical Investigation of a Patient with a Short Chain Fatty Acid Oxidation Defect

1985 • 6 citations