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Journal Abstract Search

165 related items for PubMed ID: 8488129

  • 1. [Non-ketotic hypoglycemia caused by carnitine palmitoyl transferase 1 deficiency].
    Rufini S, Bragetti P, Brunelli B, Campolo G, Lato M.
    Pediatr Med Chir; 1993; 15(1):63-6. PubMed ID: 8488129
    [Abstract] [Full Text] [Related]

  • 2. C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.
    Gregersen N, Wintzensen H, Christensen SK, Christensen MF, Brandt NJ, Rasmussen K.
    Pediatr Res; 1982 Oct; 16(10):861-8. PubMed ID: 7145508
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  • 4. [Alterations of mitochondria in metabolic diseases. Carnitine deficiency, carnitine palmitoyltransferase deficiency and beta oxidation].
    Angelini C.
    Acta Neurol (Napoli); 1989 Oct; 11(5):330-4. PubMed ID: 2603779
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  • 6. Carnitine deficiency disorders in children.
    Stanley CA.
    Ann N Y Acad Sci; 2004 Nov; 1033():42-51. PubMed ID: 15591002
    [Abstract] [Full Text] [Related]

  • 7. Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
    Korman SH, Waterham HR, Gutman A, Jakobs C, Wanders RJ.
    Mol Genet Metab; 2005 Nov; 86(3):337-43. PubMed ID: 16146704
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  • 9. Recurrent hypoglycemia associated with glutaric aciduria type II in an adult.
    Dusheiko G, Kew MC, Joffe BI, Lewin JR, Mantagos S, Tanaka K.
    N Engl J Med; 1979 Dec 27; 301(26):1405-9. PubMed ID: 514320
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  • 10. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
    Rocchiccioli F, Wanders RJ, Aubourg P, Vianey-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres PF.
    Pediatr Res; 1990 Dec 27; 28(6):657-62. PubMed ID: 2284166
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  • 12. In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
    Jakobs C, Kneer J, Martin D, Boulloche J, Brivet M, Poll-The BT, Saudubray JM.
    Eur J Pediatr; 1997 Aug 27; 156 Suppl 1():S78-82. PubMed ID: 9266222
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  • 14. Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
    Westermann CM, Dorland L, Votion DM, de Sain-van der Velden MG, Wijnberg ID, Wanders RJ, Spliet WG, Testerink N, Berger R, Ruiter JP, van der Kolk JH.
    Neuromuscul Disord; 2008 May 27; 18(5):355-64. PubMed ID: 18406615
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  • 16. [Medium chain acyl-CoA dehydrogenase deficiency. Apropos of a case with demonstration of this enzyme deficiency].
    Collet JP, Divry P, Blanc JF, Guibaud P, David M, Macabeo V, Vibert J, Hermier M.
    Pediatrie; 1984 Dec 27; 39(8):661-8. PubMed ID: 6535973
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  • 18. [Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry].
    Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Jin J, Gu XF.
    Zhonghua Yi Xue Za Zhi; 2008 Aug 05; 88(30):2122-6. PubMed ID: 19080473
    [Abstract] [Full Text] [Related]

  • 19. Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases.
    Mantagos S, Genel M, Tanaka K.
    J Clin Invest; 1979 Dec 05; 64(6):1580-9. PubMed ID: 500826
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