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PUBMED FOR HANDHELDS

Journal Abstract Search

199 related items for PubMed ID: 11001791

  • 1. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways.
    Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD.
    Mol Genet Metab; 2000; 71(1-2):10-8. PubMed ID: 11001791
    [Abstract] [Full Text] [Related]

  • 2. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.
    Schuler AM, Gower BA, Matern D, Rinaldo P, Vockley J, Wood PA.
    Mol Genet Metab; 2005 May; 85(1):7-11. PubMed ID: 15862275
    [Abstract] [Full Text] [Related]

  • 3. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
    Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N.
    Hum Mutat; 2003 Jul; 22(1):12-23. PubMed ID: 12815589
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  • 4. Genetic risk factors associated with lipid-lowering drug-induced myopathies.
    Vladutiu GD, Simmons Z, Isackson PJ, Tarnopolsky M, Peltier WL, Barboi AC, Sripathi N, Wortmann RL, Phillips PS.
    Muscle Nerve; 2006 Aug; 34(2):153-62. PubMed ID: 16671104
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  • 5. Recent developments in the investigation of inherited metabolic disorders using cultured human cells.
    Roe CR, Roe DS.
    Mol Genet Metab; 1999 Oct; 68(2):243-57. PubMed ID: 10527676
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  • 6. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
    Laforêt P, Acquaviva-Bourdain C, Rigal O, Brivet M, Penisson-Besnier I, Chabrol B, Chaigne D, Boespflug-Tanguy O, Laroche C, Bedat-Millet AL, Behin A, Delevaux I, Lombès A, Andresen BS, Eymard B, Vianey-Saban C.
    Neuromuscul Disord; 2009 May; 19(5):324-9. PubMed ID: 19327992
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  • 7. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.
    Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U.
    J Pediatr; 2003 Sep; 143(3):335-42. PubMed ID: 14517516
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  • 9. [Carnitine deficiency in inborn errors of metabolism].
    Sela BA, Lerman-Sagie T, Berkovitz M.
    Harefuah; 1997 Nov 16; 133(10):419-23, 504. PubMed ID: 9418309
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  • 11. Neurological diseases in disorders of organic acids.
    Marsden DL, Nyhan WL.
    Curr Opin Neurol Neurosurg; 1992 Jun 16; 5(3):349-54. PubMed ID: 1623263
    [Abstract] [Full Text] [Related]

  • 12. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.
    Joshi PR, Deschauer M, Zierz S.
    J Neurol Sci; 2014 Mar 15; 338(1-2):107-11. PubMed ID: 24398345
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  • 15. [Biochemical diagnosis of rare hereditary metabolic disorders. Experiences from a patient sample of the Innsbruck University Pediatric Clinic 1984-1987].
    Sperl W.
    Padiatr Padol; 1990 Mar 15; 25(3):157-67. PubMed ID: 2381732
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  • 16. 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
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  • 18. Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
    Bennett MJ, Boriack RL, Narayan S, Rutledge SL, Raff ML.
    Mol Genet Metab; 2004 May 15; 82(1):59-63. PubMed ID: 15110323
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  • 20. [Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency].
    Joensen F, Steuerwald EU, Rasmussen NH.
    Ugeskr Laeger; 2006 Feb 13; 168(7):667-70. PubMed ID: 16494802
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