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Journal Abstract Search

497 related items for PubMed ID: 23143007

  • 1. Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
    Purevsuren J, Kobayashi H, Hasegawa Y, Yamada K, Takahashi T, Takayanagi M, Fukao T, Fukuda S, Yamaguchi S.
    Anal Bioanal Chem; 2013 Feb; 405(4):1345-51. PubMed ID: 23143007
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  • 2. A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry.
    Law LK, Tang NL, Hui J, Ho CS, Ruiter J, Fok TF, Wanders RJ, Lam CW.
    Clin Chim Acta; 2007 Jul; 382(1-2):25-30. PubMed ID: 17442290
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  • 3. Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.
    Violante S, Ijlst L, Te Brinke H, Koster J, Tavares de Almeida I, Wanders RJ, Ventura FV, Houten SM.
    Biochim Biophys Acta; 2013 Sep; 1831(9):1467-74. PubMed ID: 23850792
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  • 4. Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation.
    Chegary M, Te Brinke H, Doolaard M, Ijlst L, Wijburg FA, Wanders RJ, Houten SM.
    Mol Genet Metab; 2008 Apr; 93(4):403-10. PubMed ID: 18077198
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  • 5. Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
    Vatanavicharn N, Yamada K, Aoyama Y, Fukao T, Densupsoontorn N, Jirapinyo P, Sathienkijkanchai A, Yamaguchi S, Wasant P.
    Brain Dev; 2015 Aug; 37(7):698-703. PubMed ID: 25459972
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  • 6. 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; 32(5):362-70. PubMed ID: 19589653
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  • 7. Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.
    Pande SV, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray JM.
    J Clin Invest; 1993 Mar; 91(3):1247-52. PubMed ID: 8450053
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  • 8. [Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up].
    Han LS, Ye J, Qiu WJ, Zhang HW, Wang Y, Ji WJ, Gao XL, Li XY, Jin J, Gu XF.
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):405-9. PubMed ID: 22931933
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  • 12. 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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  • 18. Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects.
    Ventura FV, Costa CG, Struys EA, Ruiter J, Allers P, Ijlst L, Tavares de Almeida I, Duran M, Jakobs C, Wanders RJ.
    Clin Chim Acta; 1999 Mar 15; 281(1-2):1-17. PubMed ID: 10217622
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  • 19. 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 15; 178(3):387-394. PubMed ID: 30617651
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