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Journal Abstract Search

156 related items for PubMed ID: 11271379

  • 1. 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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  • 2. 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 Feb; 159(1-2):82-5. PubMed ID: 10653336
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  • 9. 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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  • 10. [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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  • 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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  • 13. 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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  • 19. Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype.
    Al-Sannaa NA, Cheriyan GM.
    Saudi Med J; 2010 Aug 02; 31(8):931-4. PubMed ID: 20714679
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