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Journal Abstract Search

173 related items for PubMed ID: 7472823

  • 1. 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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  • 3. Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.
    Nuoffer JM, de Lonlay P, Costa C, Roe CR, Chamoles N, Brivet M, Saudubray JM.
    Eur J Pediatr; 2000 Nov; 159(1-2):82-5. PubMed ID: 10653336
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  • 7. 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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  • 8. Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome.
    Lopriore E, Gemke RJ, Verhoeven NM, Jakobs C, Wanders RJ, Roeleveld-Versteeg AB, Poll-The BT.
    Eur J Pediatr; 2001 Feb; 160(2):101-4. PubMed ID: 11271379
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  • 14. 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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  • 18. Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.
    Brivet M, Slama A, Ogier H, Boutron A, Demaugre F, Saudubray JM, Lemonnier A.
    J Inherit Metab Dis; 1994 Oct; 17(3):271-4. PubMed ID: 7807931
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  • 19. 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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