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Journal Abstract Search

337 related items for PubMed ID: 2893809

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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; 26(2):145-9. PubMed ID: 2570398
    [Abstract] [Full Text] [Related]

  • 3. Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase.
    Wajner M, Sanseverino MT, Giugliani R, Sweetman L, Yamaguchi S, Fukao T, Shih VE.
    Clin Genet; 1992 Apr; 41(4):202-5. PubMed ID: 1349518
    [Abstract] [Full Text] [Related]

  • 4. 3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.
    Nagasawa H, Yamaguchi S, Orii T, Schutgens RB, Sweetman L, Hashimoto T.
    J Inherit Metab Dis; 1989 Apr; 12(3):368-72. PubMed ID: 2575689
    [No Abstract] [Full Text] [Related]

  • 5. A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency.
    Groot CJ, Haan GL, Hulstaert CE, Hoomes FA.
    Pediatr Res; 1977 Oct; 11(10 Pt 2):1112-6. PubMed ID: 20597
    [Abstract] [Full Text] [Related]

  • 6. Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency: diagnosis of heterozygotes using immunochemical determination of the ratio of mitochondrial acetoacetyl-CoA thiolase and 3-ketoacyl-CoA thiolase proteins.
    Yamaguchi S, Sakai A, Fukao T, Wakazono A, Kuwahara T, Orii T, Hashimoto T.
    Pediatr Res; 1993 May; 33(5):429-32. PubMed ID: 8099727
    [Abstract] [Full Text] [Related]

  • 7. 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; 86(6):2086-92. PubMed ID: 1979337
    [Abstract] [Full Text] [Related]

  • 8. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.
    Fukao T, Scriver CR, Kondo N, t2 Collaborative Working Group.
    Mol Genet Metab; 2001 Feb; 72(2):109-14. PubMed ID: 11161836
    [Abstract] [Full Text] [Related]

  • 9. Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.
    Fukao T, Song XQ, Yamaguchi S, Orii T, Wanders RJ, Poll-The BT, Hashimoto T.
    Hum Mutat; 1995 Feb; 5(1):94-6. PubMed ID: 7728155
    [No Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.
    Fukao T, Yamaguchi S, Orii T, Hashimoto T.
    Hum Mutat; 1995 Feb; 5(2):113-20. PubMed ID: 7749408
    [Abstract] [Full Text] [Related]

  • 12. Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency.
    Yamaguchi S, Fukao T, Kano M, Wakazono A, Orii T, Sakura N, Hashimoto T.
    Tohoku J Exp Med; 1992 Jun; 167(2):143-53. PubMed ID: 1362011
    [Abstract] [Full Text] [Related]

  • 13. Immunotitration analysis of cytosolic acetoacetyl-coenzyme A thiolase activity in human fibroblasts.
    Fukao T, Song XQ, Yamaguchi S, Hashimoto T, Orii T, Kondo N.
    Pediatr Res; 1996 Jun; 39(6):1055-8. PubMed ID: 8725269
    [Abstract] [Full Text] [Related]

  • 14. 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 Jun; 13(5):757-60. PubMed ID: 1978869
    [No Abstract] [Full Text] [Related]

  • 15. 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 Jun; 9(3):277-9. PubMed ID: 9090533
    [No Abstract] [Full Text] [Related]

  • 16. Transport of proteins into mitochondrial matrix. Evidence suggesting a common pathway for 3-ketoacyl-CoA thiolase and enzymes having presequences.
    Mori M, Matsue H, Miura S, Tatibana M, Hashimoto T.
    Eur J Biochem; 1985 May 15; 149(1):181-6. PubMed ID: 2859988
    [Abstract] [Full Text] [Related]

  • 17. Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.
    Heikoop JC, van Roermund CW, Just WW, Ofman R, Schutgens RB, Heymans HS, Wanders RJ, Tager JM.
    J Clin Invest; 1990 Jul 15; 86(1):126-30. PubMed ID: 2365812
    [Abstract] [Full Text] [Related]

  • 18. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.
    Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, Mitchell GA, Lee GW, Hashimoto T.
    Hum Mutat; 1995 Jul 15; 5(1):34-42. PubMed ID: 7728148
    [Abstract] [Full Text] [Related]

  • 19. Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
    Kamijo T, Wanders RJ, Saudubray JM, Aoyama T, Komiyama A, Hashimoto T.
    J Clin Invest; 1994 Apr 15; 93(4):1740-7. PubMed ID: 8163672
    [Abstract] [Full Text] [Related]

  • 20. Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.
    Zhang GX, Fukao T, Rolland MO, Zabot MT, Renom G, Touma E, Kondo M, Matsuo N, Kondo N.
    Pediatr Res; 2004 Jul 15; 56(1):60-4. PubMed ID: 15128923
    [Abstract] [Full Text] [Related]

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