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Journal Abstract Search

239 related items for PubMed ID: 21314018

  • 1. State of the art in muscle lipid diseases.
    Liang WC, Nishino I.
    Acta Myol; 2010 Oct; 29(2):351-6. PubMed ID: 21314018
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  • 4. A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
    Hisahara S, Matsushita T, Furuyama H, Tajima G, Shigematsu Y, Imai T, Shimohama S.
    Tohoku J Exp Med; 2015 Apr; 235(4):305-10. PubMed ID: 25843429
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  • 5. Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
    Janeiro P, Jotta R, Ramos R, Florindo C, Ventura FV, Vilarinho L, Tavares de Almeida I, Gaspar A.
    Eur J Pediatr; 2019 Mar; 178(3):387-394. PubMed ID: 30617651
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  • 6. Carnitine Inborn Errors of Metabolism.
    Almannai M, Alfadhel M, El-Hattab AW.
    Molecules; 2019 Sep 06; 24(18):. PubMed ID: 31500110
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  • 8. Significance of l-carnitine for human health.
    Adeva-Andany MM, Calvo-Castro I, Fernández-Fernández C, Donapetry-García C, Pedre-Piñeiro AM.
    IUBMB Life; 2017 Aug 06; 69(8):578-594. PubMed ID: 28653367
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  • 10. Muscle MRI in patients with long-chain fatty acid oxidation disorders.
    Diekman EF, van der Pol WL, Nievelstein RA, Houten SM, Wijburg FA, Visser G.
    J Inherit Metab Dis; 2014 May 06; 37(3):405-13. PubMed ID: 24305961
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  • 13. Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
    Rovelli V, Manzoni F, Viau K, Pasquali M, Longo N.
    Mol Genet Metab; 2019 May 06; 127(1):64-73. PubMed ID: 31031081
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  • 14. Lipid storage myopathies: Current treatments and future directions.
    Vasiljevski ER, Summers MA, Little DG, Schindeler A.
    Prog Lipid Res; 2018 Oct 06; 72():1-17. PubMed ID: 30099045
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  • 15. Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
    Ambrose A, Sheehan M, Bahl S, Athey T, Ghai-Jain S, Chan A, Mercimek-Andrews S.
    Orphanet J Rare Dis; 2022 Sep 15; 17(1):360. PubMed ID: 36109795
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  • 16. Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
    Yuasa M, Hata I, Sugihara K, Isozaki Y, Ohshima Y, Hara K, Tajima G, Shigematsu Y.
    Dis Markers; 2019 Sep 15; 2019():2984747. PubMed ID: 30881520
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  • 17. Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride.
    Gaston G, Gangoiti JA, Winn S, Chan B, Barshop BA, Harding CO, Gillingham MB.
    J Inherit Metab Dis; 2020 Nov 15; 43(6):1232-1242. PubMed ID: 33448436
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  • 18. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
    Yamada K, Taketani T.
    J Hum Genet; 2019 Feb 15; 64(2):73-85. PubMed ID: 30401918
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  • 19. L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency.
    Madsen KL, Preisler N, Rasmussen J, Hedermann G, Olesen JH, Lund AM, Vissing J.
    J Clin Endocrinol Metab; 2018 Dec 01; 103(12):4580-4588. PubMed ID: 30219858
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  • 20. Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
    Tenopoulou M, Chen J, Bastin J, Bennett MJ, Ischiropoulos H, Doulias PT.
    J Biol Chem; 2015 Apr 17; 290(16):10486-94. PubMed ID: 25737446
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