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Journal Abstract Search

165 related items for PubMed ID: 29996190

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  • 5. Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report.
    Zhang L, Hu Y, Xie M, Zhang Y, Cen K, Chen L, Cui Y, Li H, Wang D.
    J Int Med Res; 2023 Apr; 51(4):3000605231163811. PubMed ID: 37115522
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  • 6. Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
    Habib A, Azize NAA, Rahman SA, Yakob Y, Suberamaniam V, Nazri MIBA, Abdullah Sani H, Ch'ng GS, Yin LH, Olpin S, Lock-Hock N.
    Clin Biochem; 2021 Dec; 98():48-53. PubMed ID: 34626609
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  • 7. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
    Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.
    Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
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  • 8. Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency.
    Jing J, Zhang C, Du S, Tan X, Yue X, Qiao D.
    Cardiovasc Pathol; 2024 Oct; 70():107630. PubMed ID: 38490313
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  • 9. 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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  • 10. [Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].
    Zhang Q, Feng X, Wang X, Liu F, Zhou B, Zhang C, Wang Y, Shi J, Hao S, Hui L, Yi B.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr 10; 41(4):467-472. PubMed ID: 38565514
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  • 11. Late-Onset Carnitine-Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy.
    Chen M, Cai Y, Li S, Xiong H, Liu M, Ma F, Xiao X, Hao H.
    Front Pediatr; 2020 Apr 10; 8():585646. PubMed ID: 33194920
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  • 12. 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 10; 103(4):349-57. PubMed ID: 21605995
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  • 13. Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency.
    Tran VK, Diep QM, Qiu Z, Le TP, Do LD, Tran HA, Bui TH, Ta TV, Tran TH.
    Taiwan J Obstet Gynecol; 2022 Jan 10; 61(1):153-156. PubMed ID: 35181030
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  • 14. One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.
    Li X, Shen J.
    Front Pediatr; 2022 Jan 10; 10():1029004. PubMed ID: 36419912
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  • 15. Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.
    Lee RS, Lam CW, Lai CK, Yuen YP, Chan KY, Shek CC, Chan AY, Chow CB.
    Hong Kong Med J; 2007 Feb 10; 13(1):66-8. PubMed ID: 17277394
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  • 16. 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 10; 160(2):101-4. PubMed ID: 11271379
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  • 17. A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
    Korman SH, Pitt JJ, Boneh A, Dweikat I, Zater M, Meiner V, Gutman A, Brivet M.
    Mol Genet Metab; 2006 Dec 10; 89(4):332-8. PubMed ID: 16919490
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  • 18. Carnitine-acylcarnitine translocase deficiency: case report and review of the literature.
    Rubio-Gozalbo ME, Vos P, Forget PP, Van Der Meer SB, Wanders RJ, Waterham HR, Bakker JA.
    Acta Paediatr; 2003 Apr 10; 92(4):501-4. PubMed ID: 12801121
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  • 19. 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 Apr 10; 27(2):267-73. PubMed ID: 15159657
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  • 20. Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.
    Hsu BY, Iacobazzi V, Wang Z, Harvie H, Chalmers RA, Saudubray JM, Palmieri F, Ganguly A, Stanley CA.
    Mol Genet Metab; 2001 Apr 10; 74(1-2):248-55. PubMed ID: 11592821
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