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Journal Abstract Search

159 related items for PubMed ID: 1362557

  • 1. Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.
    Kuwahara T, Fukao T, Kano M, Yamaguchi S, Orii T, Hashimoto T.
    Hum Genet; 1992 Nov; 90(3):208-10. PubMed ID: 1362557
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  • 5. Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.
    Fukao T, Song XQ, Yamaguchi S, Kondo N, Orii T, Matthieu JM, Bachmann C, Hashimoto T.
    Hum Mutat; 1997 Nov; 9(3):277-9. PubMed ID: 9090533
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  • 6. Beta-ketothiolase deficiency in a Malaysian infant.
    Rajan D, Constance LSL, Brandon P.
    Med J Malaysia; 2019 Apr; 74(2):174-175. PubMed ID: 31079130
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  • 7. Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.
    Fukao T, Yamaguchi S, Orii T, Schutgens RB, Osumi T, Hashimoto T.
    J Clin Invest; 1992 Feb; 89(2):474-9. PubMed ID: 1346617
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  • 8. Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency.
    Fukao T, Yamaguchi S, Nagasawa H, Kano M, Orii T, Fujiki Y, Osumi T, Hashimoto T.
    J Inherit Metab Dis; 1990 Feb; 13(5):757-60. PubMed ID: 1978869
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  • 9. Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.
    Fukao T, Yamaguchi S, Wakazono A, Okamoto H, Orii T, Osumi T, Hashimoto T.
    J Inherit Metab Dis; 1992 Feb; 15(5):815-20. PubMed ID: 1359192
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  • 10. Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.
    Sundaram S, Nair M, Namboodhiri S, Menon RN.
    Neurol India; 2018 Feb; 66(6):1802-1804. PubMed ID: 30504584
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  • 11. Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
    Fukao T, Aoyama Y, Murase K, Hori T, Harijan RK, Wierenga RK, Boneh A, Kondo N.
    Mol Genet Metab; 2013 Feb; 110(1-2):184-7. PubMed ID: 23920042
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  • 12. Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
    Yamaguchi S, Orii T, Sakura N, Miyazawa S, Hashimoto T.
    J Clin Invest; 1988 Mar; 81(3):813-7. PubMed ID: 2893809
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  • 13. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
    Abdelkreem E, Harijan RK, Yamaguchi S, Wierenga RK, Fukao T.
    Hum Mutat; 2019 Oct; 40(10):1641-1663. PubMed ID: 31268215
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  • 14. Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping.
    Fukao T, Yamaguchi S, Orii T, Osumi T, Hashimoto T.
    Biochim Biophys Acta; 1992 Jul 07; 1139(3):184-8. PubMed ID: 1627655
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  • 15. The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
    Catanzano F, Ombrone D, Di Stefano C, Rossi A, Nosari N, Scolamiero E, Tandurella I, Frisso G, Parenti G, Ruoppolo M, Andria G, Salvatore F.
    J Inherit Metab Dis; 2010 Dec 07; 33 Suppl 3(Suppl 3):S91-4. PubMed ID: 20157782
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  • 16. Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.
    Akella RR, Aoyama Y, Mori C, Lingappa L, Cariappa R, Fukao T.
    Brain Dev; 2014 Jun 07; 36(6):537-40. PubMed ID: 23958592
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  • 17. Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency.
    Nagasawa H, Yamaguchi S, Orii T, Schutgens RB, Sweetman L, Hashimoto T.
    Pediatr Res; 1989 Aug 07; 26(2):145-9. PubMed ID: 2570398
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  • 18. Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.
    Fukao T, Yamaguchi S, Kano M, Orii T, Fujiki Y, Osumi T, Hashimoto T.
    J Clin Invest; 1990 Dec 07; 86(6):2086-92. PubMed ID: 1979337
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