Defect in fatty acid oxidation: laboratory and pathologic findings in a patient.
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B. Kirschner | J. Tonsgard | P. Whitington | W. Rhead | J. Stephens | M. Tripp | S. Berger | D. Penn | A. Horwitz
[1] H. Schulz. Mitochondrial beta-oxidation. , 1990, Progress in clinical and biological research.
[2] C. Stanley,et al. Long-Chain Acyl-CoA Dehydrogenase Deficiency , 2020, Definitions.
[3] P. Coates,et al. Fatty acid oxidation : clinical biochemical, and molecular aspects , 1989 .
[4] C. Stanley,et al. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. , 1988 .
[5] B. Amendt,et al. Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Biochemical Studies in Fibroblasts from Three Patients , 1988, Pediatric Research.
[6] K. Tanaka,et al. [Medium chain acyl-CoA dehydrogenase deficiency]. , 1988, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme.
[7] W. Rhead,et al. Complementation analysis of fatty acid oxidation disorders. , 1987, The Journal of clinical investigation.
[8] C. Stanley,et al. Medium‐chain and long‐chain acyl CoA dehydrogenase deficiency: Clinical, pathologic and ultrastructural differentiation from Reye's syndrome , 1986, Hepatology.
[9] J. Tonsgard. Serum dicarboxylic acids in patients with Reye syndrome. , 1986, The Journal of pediatrics.
[10] D. Maltby,et al. Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes. , 1986, The Journal of pediatrics.
[11] C. Rössle,et al. An improved method for the determination of free and esterified carnitine. , 1985, Clinica chimica acta; international journal of clinical chemistry.
[12] C. Stanley,et al. Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency: An Inherited Cause of Nonketotic Hypoglycemia , 1985, Pediatric Research.
[13] T. Bohan,et al. Diagnostic and Therapeutic Implications of Medium-Chain Acylcarnitines in the Medium-Chain Acyl-CoA Dehydrogenase Deficiency , 1985, Pediatric Research.
[14] D. Turnbull,et al. Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. , 1984, The New England journal of medicine.
[15] M. Bennett,et al. Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome. , 1984, British medical journal.
[16] C. Stanley,et al. Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Children with Non-Ketotic Hypoglycemia and Low Carnitine Levels , 1983, Pediatric Research.
[17] D. Penn,et al. Carnitine and carnitine esters in plasma and adipose tissue of chronic uremic patients undergoing hemodialysis. , 1983, Metabolism: clinical and experimental.
[18] C. Dabrowski,et al. 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, The Journal of biological chemistry.
[19] M. Norenberg,et al. Glutaric acidemia type II: clinical, biochemical, and morphologic considerations. , 1982, The Journal of pediatrics.
[20] K. Tanaka,et al. Novel tritium release assays for isovaleryl-CoA and butyryl-CoA dehydrogenases. , 1981, The Journal of biological chemistry.
[21] S. Markey,et al. Diagnosis of organic acidemias by gas chromatography--mass spectrometry. , 1981, Laboratory and research methods in biology and medicine.
[22] K. Tanaka,et al. Gas-chromatographic method of analysis for urinary organic acids. I. Retention indices of 155 metabolically important compounds. , 1980, Clinical chemistry.
[23] A. Engel,et al. The syndrome of systemic carnitine deficiency , 1975, Neurology.
[24] W. Schubert,et al. Mitochondrial ultrastructure in Reye's syndrome (encephalopathy and fatty degeneration of the viscera). , 1971, The New England journal of medicine.
[25] D. E. Green. Fatty acid oxidation , 1963 .