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Journal Abstract Search

216 related items for PubMed ID: 2235122

  • 1. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.
    Tein I, De Vivo DC, Bierman F, Pulver P, De Meirleir LJ, Cvitanovic-Sojat L, Pagon RA, Bertini E, Dionisi-Vici C, Servidei S.
    Pediatr Res; 1990 Sep; 28(3):247-55. PubMed ID: 2235122
    [Abstract] [Full Text] [Related]

  • 2. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.
    Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP, Saudubray JM, Haymond M, Trefz FK, Breningstall GN.
    Ann Neurol; 1991 Nov; 30(5):709-16. PubMed ID: 1763895
    [Abstract] [Full Text] [Related]

  • 3. Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency.
    Tein I, DiMauro S, Xie ZW, De Vivo DC.
    Pediatr Res; 1993 Sep; 34(3):281-7. PubMed ID: 8134167
    [Abstract] [Full Text] [Related]

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

  • 5. [Cardiomyopathy caused by carnitine deficiency].
    Vikre-Jørgensen J.
    Ugeskr Laeger; 1993 Oct 18; 155(42):3390-2. PubMed ID: 8259632
    [Abstract] [Full Text] [Related]

  • 6. 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 18; 16(10):861-8. PubMed ID: 7145508
    [Abstract] [Full Text] [Related]

  • 7. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
    Lamhonwah AM, Olpin SE, Pollitt RJ, Vianey-Saban C, Divry P, Guffon N, Besley GT, Onizuka R, De Meirleir LJ, Cvitanovic-Sojat L, Baric I, Dionisi-Vici C, Fumic K, Maradin M, Tein I.
    Am J Med Genet; 2002 Aug 15; 111(3):271-84. PubMed ID: 12210323
    [Abstract] [Full Text] [Related]

  • 8. Deficient muscle carnitine transport in primary carnitine deficiency.
    Pons R, Carrozzo R, Tein I, Walker WF, Addonizio LJ, Rhead W, Miranda AF, Dimauro S, De Vivo DC.
    Pediatr Res; 1997 Nov 15; 42(5):583-7. PubMed ID: 9357927
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 16(10):877-81. PubMed ID: 7145511
    [Abstract] [Full Text] [Related]

  • 10. Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome.
    Chapoy PR, Angelini C, Brown WJ, Stiff JE, Shug AL, Cederbaum SD.
    N Engl J Med; 1980 Dec 11; 303(24):1389-94. PubMed ID: 7432384
    [Abstract] [Full Text] [Related]

  • 11. The syndrome of carnitine deficiency.
    Di Donato S, Cornelio F.
    Riv Patol Nerv Ment; 1976 Aug 11; 97(4):181-5. PubMed ID: 1032033
    [Abstract] [Full Text] [Related]

  • 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 11; 156 Suppl 1():S78-82. PubMed ID: 9266222
    [Abstract] [Full Text] [Related]

  • 13. Primary and secondary carnitine deficiency in man.
    Di Donato S.
    Ital J Biochem; 1984 Aug 11; 33(4):285A-291A. PubMed ID: 6511302
    [No Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. The role of L-carnitine in pediatric cardiomyopathy.
    Winter S, Jue K, Prochazka J, Francis P, Hamilton W, Linn L, Helton E.
    J Child Neurol; 1995 Nov 15; 10 Suppl 2():S45-51. PubMed ID: 8576569
    [Abstract] [Full Text] [Related]

  • 16. Carnitine deficiency disorders in children.
    Stanley CA.
    Ann N Y Acad Sci; 2004 Nov 15; 1033():42-51. PubMed ID: 15591002
    [Abstract] [Full Text] [Related]

  • 17. Renal handling of carnitine in secondary carnitine deficiency disorders.
    Stanley CA, Berry GT, Bennett MJ, Willi SM, Treem WR, Hale DE.
    Pediatr Res; 1993 Jul 15; 34(1):89-97. PubMed ID: 8356025
    [Abstract] [Full Text] [Related]

  • 18. Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet.
    Glasgow AM, Engel AG, Bier DM, Perry LW, Dickie M, Todaro J, Brown BI, Utter MF.
    Pediatr Res; 1983 May 15; 17(5):319-26. PubMed ID: 6682967
    [Abstract] [Full Text] [Related]

  • 19. Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene.
    Lamhonwah AM, Tein I.
    Biochem Biophys Res Commun; 1998 Nov 18; 252(2):396-401. PubMed ID: 9826541
    [Abstract] [Full Text] [Related]

  • 20. Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders.
    Tein I, De Vivo DC, Ranucci D, DiMauro S.
    J Inherit Metab Dis; 1993 Nov 18; 16(1):135-46. PubMed ID: 8387612
    [Abstract] [Full Text] [Related]

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