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Journal Abstract Search

382 related items for PubMed ID: 1594327

  • 1. Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency.
    Coates PM, Indo Y, Young D, Hale DE, Tanaka K.
    Pediatr Res; 1992 Jan; 31(1):34-8. PubMed ID: 1594327
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  • 2. Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency.
    Indo Y, Coates PM, Hale DE, Tanaka K.
    Pediatr Res; 1991 Sep; 30(3):211-5. PubMed ID: 1945557
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  • 8. Prenatal diagnosis of mitochondrial fatty acid oxidation defects.
    Nada MA, Vianey-Saban C, Roe CR, Ding JH, Mathieu M, Wappner RS, Bialer MG, McGlynn JA, Mandon G.
    Prenat Diagn; 1996 Feb; 16(2):117-24. PubMed ID: 8650121
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  • 9. A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).
    Andresen BS, Bross P, Jensen TG, Winter V, Knudsen I, Kølvraa S, Jensen UB, Bolund L, Duran M, Kim JJ.
    Am J Hum Genet; 1993 Sep; 53(3):730-9. PubMed ID: 8102510
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  • 12. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
    Brackett JC, Sims HF, Steiner RD, Nunge M, Zimmerman EM, deMartinville B, Rinaldo P, Slaugh R, Strauss AW.
    J Clin Invest; 1994 Oct; 94(4):1477-83. PubMed ID: 7929823
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  • 14. Short-chain acyl-coenzyme A dehydrogenase activity, antigen, and biosynthesis are absent in the BALB/cByJ mouse.
    Amendt BA, Freneaux E, Reece C, Wood PA, Rhead WJ.
    Pediatr Res; 1992 Jun; 31(6):552-6. PubMed ID: 1635815
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  • 15. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.
    Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman K, Tonsgard JH, Rhead WJ, Hashimoto T.
    Biochem Biophys Res Commun; 1993 Mar 31; 191(3):1369-72. PubMed ID: 8466512
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  • 16. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
    Ziadeh R, Hoffman EP, Finegold DN, Hoop RC, Brackett JC, Strauss AW, Naylor EW.
    Pediatr Res; 1995 May 31; 37(5):675-8. PubMed ID: 7603790
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  • 17. [Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in 2 patients with symptoms of Reye syndrome].
    Brus F, Smit GP, Knoester H, Reijngoud DJ.
    Tijdschr Kindergeneeskd; 1988 Jun 31; 56(3):132-7. PubMed ID: 3046055
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  • 18. Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay.
    Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S.
    Brain Dev; 2010 May 31; 32(5):362-70. PubMed ID: 19589653
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