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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. 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 [Abstract] [Full Text] [Related]
7. 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 01; 60(3):308-311. PubMed ID: 30799594 [Abstract] [Full Text] [Related]
10. 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 01; 56(6):858-63. PubMed ID: 15496607 [Abstract] [Full Text] [Related]
12. 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 [Abstract] [Full Text] [Related]
13. Inborn errors of ketone body utilization. Hori T, Yamaguchi S, Shinkaku H, Horikawa R, Shigematsu Y, Takayanagi M, Fukao T. Pediatr Int; 2015 Apr 01; 57(1):41-8. PubMed ID: 25559898 [Abstract] [Full Text] [Related]
14. 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 [Abstract] [Full Text] [Related]
15. 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 01; 12(2):83-8. PubMed ID: 9671268 [Abstract] [Full Text] [Related]
16. 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 01; 59(3):519-28. PubMed ID: 8751852 [Abstract] [Full Text] [Related]
17. Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. Fukao T, Kursula P, Owen EP, Kondo N. Mol Genet Metab; 2007 Nov 01; 92(3):216-21. PubMed ID: 17706444 [Abstract] [Full Text] [Related]
18. Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency. Song XQ, Fukao T, Mitchell GA, Kassovska-Bratinova S, Ugarte M, Wanders RJ, Hirayama K, Shintaku H, Churchill P, Watanabe H, Orii T, Kondo N. Biochim Biophys Acta; 1997 Apr 12; 1360(2):151-6. PubMed ID: 9128180 [Abstract] [Full Text] [Related]
19. 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 12; 89(3):280-2. PubMed ID: 16765626 [Abstract] [Full Text] [Related]
20. [Succinyl-CoA: 3-ketoacid CoA transferase deficiency]. Fukao T. Ryoikibetsu Shokogun Shirizu; 1998 Nov 12; (18 Pt 1):355-8. PubMed ID: 9590068 [No Abstract] [Full Text] [Related] Page: [Next] [New Search]