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Journal Abstract Search

198 related items for PubMed ID: 30799594

  • 1. 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; 60(3):308-311. PubMed ID: 30799594
    [Abstract] [Full Text] [Related]

  • 2. Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.
    Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Naiki Y, Kubota M, Sekine Y, Itoh M, Nakama M, Ohnishi H, Fujiki R, Ohara O, Fukao T.
    J Inherit Metab Dis; 2017 Nov; 40(6):845-852. PubMed ID: 28695376
    [Abstract] [Full Text] [Related]

  • 3. A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
    Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S307-13. PubMed ID: 20652411
    [Abstract] [Full Text] [Related]

  • 4. Inborn errors of ketone body utilization.
    Hori T, Yamaguchi S, Shinkaku H, Horikawa R, Shigematsu Y, Takayanagi M, Fukao T.
    Pediatr Int; 2015 Dec; 57(1):41-8. PubMed ID: 25559898
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
    Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Barić I, Zabot MT, Kondo N.
    Biochim Biophys Acta; 2011 May; 1812(5):619-24. PubMed ID: 21296660
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  • 7. A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacid-CoA transferase deficiency with OXCT1 gene mutations.
    Dhammi N, Essakow J, Gallagher R, Gaw C.
    SAGE Open Med Case Rep; 2022 May; 10():2050313X221111274. PubMed ID: 35847427
    [Abstract] [Full Text] [Related]

  • 8. 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; 183():55-62. PubMed ID: 33596448
    [Abstract] [Full Text] [Related]

  • 9. When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.
    Schwade JN, Endmann M, Hofmann T, Rust S, Sass JO, Rutsch F.
    J Pediatr Endocrinol Metab; 2017 Oct 26; 30(10):1121-1124. PubMed ID: 28820737
    [Abstract] [Full Text] [Related]

  • 10. 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 26; 90(3):291-7. PubMed ID: 17169596
    [Abstract] [Full Text] [Related]

  • 11. 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 26; 19(3):296-300. PubMed ID: 8803771
    [Abstract] [Full Text] [Related]

  • 12. 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 26; 24(5):587-95. PubMed ID: 11757586
    [Abstract] [Full Text] [Related]

  • 13. Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis.
    Fukao T, Shintaku H, Kusubae R, Zhang GX, Nakamura K, Kondo M, Kondo N.
    Pediatr Res; 2004 Dec 26; 56(6):858-63. PubMed ID: 15496607
    [Abstract] [Full Text] [Related]

  • 14. 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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