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Journal Abstract Search

118 related items for PubMed ID: 9128180

  • 1.
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  • 2. Inborn errors of ketone body utilization.
    Hori T, Yamaguchi S, Shinkaku H, Horikawa R, Shigematsu Y, Takayanagi M, Fukao T.
    Pediatr Int; 2015; 57(1):41-8. PubMed ID: 25559898
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  • 3. Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency.
    Fukao T, Song XQ, Watanabe H, Hirayama K, Sakazaki H, Shintaku H, Imanaka M, Orii T, Kondo N.
    Prenat Diagn; 1996 May; 16(5):471-4. PubMed ID: 8844009
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  • 4. Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases.
    Fukao T, Song XQ, Mitchell GA, Yamaguchi S, Sukegawa K, Orii T, Kondo N.
    Pediatr Res; 1997 Oct; 42(4):498-502. PubMed ID: 9380443
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  • 5. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.
    Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S, Kondo N, Mitchell GA.
    Hum Mutat; 1998 Oct; 12(2):83-8. PubMed ID: 9671268
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  • 8. A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
    Shafqat N, Kavanagh KL, Sass JO, Christensen E, Fukao T, Lee WH, Oppermann U, Yue WW.
    J Inherit Metab Dis; 2013 Nov; 36(6):983-7. PubMed ID: 23420214
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  • 10. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.
    Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N.
    Genomics; 2000 Sep 01; 68(2):144-51. PubMed ID: 10964512
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  • 11. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency.
    Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ.
    J Inherit Metab Dis; 2001 Oct 01; 24(5):587-95. PubMed ID: 11757586
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  • 12. [Succinyl-CoA: 3-ketoacid CoA transferase deficiency].
    Fukao T.
    Ryoikibetsu Shokogun Shirizu; 1998 Oct 01; (18 Pt 1):355-8. PubMed ID: 9590068
    [No Abstract] [Full Text] [Related]

  • 13. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
    Grünert SC, Foster W, Schumann A, Lund A, Pontes C, Roloff S, Weinhold N, Yue WW, AlAsmari A, Obaid OA, Faqeih EA, Stübbe L, Yamamoto R, Gemperle-Britschgi C, Walter M, Spiekerkoetter U, Mackinnon S, Sass JO.
    Biochimie; 2021 Apr 01; 183():55-62. PubMed ID: 33596448
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  • 14. Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
    Yamada K, Fukao T, Zhang G, Sakurai S, Ruiter JP, Wanders RJ, Kondo N.
    Mol Genet Metab; 2007 Mar 01; 90(3):291-7. PubMed ID: 17169596
    [Abstract] [Full Text] [Related]

  • 15. Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidation.
    Cotter DG, Schugar RC, Wentz AE, d'Avignon DA, Crawford PA.
    Am J Physiol Endocrinol Metab; 2013 Feb 15; 304(4):E363-74. PubMed ID: 23233542
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  • 16. A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency.
    Kim YA, Kim SH, Cheon CK, Kim YM.
    Yonsei Med J; 2019 Mar 15; 60(3):308-311. PubMed ID: 30799594
    [Abstract] [Full Text] [Related]

  • 17. Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblasts.
    Pretorius CJ, Loy Son GG, Bonnici F, Harley EH.
    J Inherit Metab Dis; 1996 Mar 15; 19(3):296-300. PubMed ID: 8803771
    [Abstract] [Full Text] [Related]

  • 18. A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.
    Fukao T, Sakurai S, Rolland MO, Zabot MT, Schulze A, Yamada K, Kondo N.
    Mol Genet Metab; 2006 Nov 15; 89(3):280-2. PubMed ID: 16765626
    [Abstract] [Full Text] [Related]

  • 19. Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase.
    Orii KE, Fukao T, Song XQ, Mitchell GA, Kondo N.
    Tohoku J Exp Med; 2008 Jul 15; 215(3):227-36. PubMed ID: 18648183
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  • 20. Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.
    Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Pérez-Cerdá C, Ugarte M, Chartrand C, Vobecky S, Kondo N, Mitchell GA.
    Am J Hum Genet; 1996 Sep 15; 59(3):519-28. PubMed ID: 8751852
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