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Journal Abstract Search

155 related items for PubMed ID: 12801121

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  • 2. 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; 27(2):267-73. PubMed ID: 15159657
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  • 3. 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; 30(5):815. PubMed ID: 17508264
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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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  • 11. Carnitine-acylcarnitine translocase deficiency.
    Pande SV.
    Am J Med Sci; 1999 Jul; 318(1):22-7. PubMed ID: 10408757
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  • 12. Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.
    Ogier de Baulny H, Slama A, Touati G, Turnbull DM, Pourfarzam M, Brivet M.
    J Pediatr; 1995 Nov; 127(5):723-8. PubMed ID: 7472823
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  • 13. Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.
    Chalmers RA, Stanley CA, English N, Wigglesworth JS.
    J Pediatr; 1997 Aug; 131(2):220-5. PubMed ID: 9290607
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  • 19. 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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  • 20. Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.
    Yang BZ, Mallory JM, Roe DS, Brivet M, Strobel GD, Jones KM, Ding JH, Roe CR.
    Mol Genet Metab; 2001 May; 73(1):64-70. PubMed ID: 11350184
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