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Journal Abstract Search

326 related items for PubMed ID: 25459972

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  • 5. Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
    Fukushima T, Kaneoka H, Yasuno T, Sasaguri Y, Tokuyasu T, Tokoro K, Fukao T, Saito T.
    J Hum Genet; 2013 Dec; 58(12):788-93. PubMed ID: 24088670
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  • 6. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
    Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ.
    Mol Genet Metab; 2011 Aug; 103(4):349-57. PubMed ID: 21605995
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  • 8. [Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G].
    Fan X, Xie BB, Zhang Q, Yi S, Geng GX, Yang Q, Luo JS, Wang J, Li C, Chen SK, Shen YP.
    Zhonghua Er Ke Za Zhi; 2018 Jul 02; 56(7):545-549. PubMed ID: 29996190
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  • 9. Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.
    Yamaguchi S, Li H, Purevsuren J, Yamada K, Furui M, Takahashi T, Mushimoto Y, Kobayashi H, Hasegawa Y, Taketani T, Fukao T, Fukuda S.
    Mol Genet Metab; 2012 Sep 02; 107(1-2):87-91. PubMed ID: 22841441
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  • 11. Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China.
    Tang C, Liu S, Wu M, Lin S, Lin Y, Su L, Zhang J, Feng Y, Huang Y.
    Clin Chim Acta; 2019 Aug 02; 495():476-480. PubMed ID: 31108048
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  • 14. Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient.
    Galron D, Birk OS, Kazanovitz A, Moses SW, Hershkovitz E.
    J Inherit Metab Dis; 2004 Aug 02; 27(2):267-73. PubMed ID: 15159657
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  • 16. Prospective treatment in carnitine-acylcarnitine translocase deficiency.
    Pierre G, Macdonald A, Gray G, Hendriksz C, Preece MA, Chakrapani A.
    J Inherit Metab Dis; 2007 Oct 02; 30(5):815. PubMed ID: 17508264
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