Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

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

1990 • 552 citations

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

1988 • 211 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

A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial Membrane

1992 • 183 citations

Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identification and analysis of acylcarnitines in metabolic disease

1984 • 117 citations

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

1985 • 116 citations

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

1991 • 114 citations

Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.

1990 • 99 citations

Oxidation of Fatty Acids in Cultured Fibroblasts: a Model System for the Detection and Study of Defects in Oxidation

1982 • 91 citations

The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders.

1992 • 89 citations

[28] Short-chain acylcarnitines: Identification and quantitation

1986 • 41 citations

Diagnosis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Lymphocytes and Liver by a Gas Chromatographic Method: The Effect of Oral Riboflavin Supplementation

1992 • 28 citations

Urinary Medium-Chain Acylcarnitines in Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Medium-Chain Triglyceride Feeding and Valproic Acid Therapy: Sensitivity and Specificity of the Radioisotopic Exchange/High Performance Liquid Chromatography Method

1992 • 26 citations

Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: Effect of metabolic state and l-carnitine therapy

1989 • 23 citations

Defect in fatty acid oxidation: Laboratory and pathologic findings in a patient

1991 • 7 citations