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Journal Abstract Search

758 related items for PubMed ID: 9266222

  • 1. 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; 156 Suppl 1():S78-82. PubMed ID: 9266222
    [Abstract] [Full Text] [Related]

  • 2. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
    Stanley CA.
    Adv Pediatr; 1987 Aug; 34():59-88. PubMed ID: 3318304
    [Abstract] [Full Text] [Related]

  • 3. Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation.
    Saudubray JM, Coudé FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL.
    Pediatr Res; 1982 Oct; 16(10):877-81. PubMed ID: 7145511
    [Abstract] [Full Text] [Related]

  • 4. A case of impairment of mitochondrial fatty acid beta-oxidation.
    Hasegawa T, Hori N, Du W.
    Keio J Med; 2002 Jun; 51(2):100-6. PubMed ID: 12125906
    [Abstract] [Full Text] [Related]

  • 5. Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
    Li H, Fukuda S, Hasegawa Y, Purevsuren J, Kobayashi H, Mushimoto Y, Yamaguchi S.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2010 Jun 15; 878(20):1669-72. PubMed ID: 20207594
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  • 6. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
    Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P.
    Hum Mutat; 2001 Sep 15; 18(3):169-89. PubMed ID: 11524729
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 16(10):861-8. PubMed ID: 7145508
    [Abstract] [Full Text] [Related]

  • 8. Diagnosis of mitochondrial fatty acid oxidation defects.
    Duran M, Bruinvis L, Ketting D, Dorland L.
    Padiatr Padol; 1993 Oct 15; 28(1):19-25. PubMed ID: 8446424
    [Abstract] [Full Text] [Related]

  • 9. Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia.
    Van Hove JL, Kahler SG, Millington DS, Roe DS, Chace DH, Heales SJ, Roe CR.
    Pediatr Res; 1994 Jan 15; 35(1):96-101. PubMed ID: 8134205
    [Abstract] [Full Text] [Related]

  • 10. Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders.
    Schmidt-Sommerfeld E, Bobrowski PJ, Penn D, Rhead WJ, Wanders RJ, Bennett MJ.
    Pediatr Res; 1998 Aug 15; 44(2):210-4. PubMed ID: 9702916
    [Abstract] [Full Text] [Related]

  • 11. 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.
    Schmidt-Sommerfeld E, Penn D, Rinaldo P, Kossak D, Li BU, Huang ZH, Gage DA.
    Pediatr Res; 1992 Jun 15; 31(6):545-51. PubMed ID: 1635814
    [Abstract] [Full Text] [Related]

  • 12. A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.
    Manning NJ, Olpin SE, Pollitt RJ, Webley J.
    J Inherit Metab Dis; 1990 Jun 15; 13(1):58-68. PubMed ID: 2109149
    [Abstract] [Full Text] [Related]

  • 13. Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.
    Liebig M, Schymik I, Mueller M, Wendel U, Mayatepek E, Ruiter J, Strauss AW, Wanders RJ, Spiekerkoetter U.
    Pediatrics; 2006 Sep 15; 118(3):1065-9. PubMed ID: 16950999
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 32(5):362-70. PubMed ID: 19589653
    [Abstract] [Full Text] [Related]

  • 15. [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 15; 56(3):132-7. PubMed ID: 3046055
    [Abstract] [Full Text] [Related]

  • 16. Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders.
    Dessein AF, Fontaine M, Dobbelaere D, Mention-Mulliez K, Martin-Ponthieu A, Briand G, Vamecq J.
    Clin Chim Acta; 2009 Aug 15; 406(1-2):23-6. PubMed ID: 19422814
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  • 18. Carnitine deficiency disorders in children.
    Stanley CA.
    Ann N Y Acad Sci; 2004 Nov 15; 1033():42-51. PubMed ID: 15591002
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