Literature DB >> 7474899

A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency.

H Sakazaki1, K Hirayama, S Murakami, S Yonezawa, H Shintaku, Y Sawada, T Fukao, H Watanabe, T Orii, G Isshiki.   

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Year:  1995        PMID： 7474899     DOI： 10.1007/bf00710423

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  A new case of succinyl-CoA: acetoacetate transferase deficiency.

Authors:  C Pérez-Cerdá; B Merinero; P Sanz; A Jiménez; C Hernández; M J García; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

3.  A modification of the Lowry procedure to simplify protein determination in membrane and lipoprotein samples.

Authors:  M A Markwell; S M Haas; L L Bieber; N E Tolbert
Journal:  Anal Biochem       Date:  1978-06-15       Impact factor: 3.365

4.  Activities of enzymes involved in acetoacetate utilization in adult mammalian tissues.

Authors:  D H Williamson; M W Bates; M A Page; H A Krebs
Journal:  Biochem J       Date:  1971-01       Impact factor: 3.857

5.  Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy.

Authors:  J T Tildon; M Cornblath
Journal:  J Clin Invest       Date:  1972-03       Impact factor: 14.808

6.  Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.

Authors:  S Yamaguchi; T Orii; N Sakura; S Miyazawa; T Hashimoto
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808

Review 7.  Hyperketotic states due to inherited defects of ketolysis.

Authors:  J M Saudubray; N Specola; B Middleton; A Lombes; J P Bonnefont; C Jakobs; A Vassault; C Charpentier; R Day
Journal:  Enzyme       Date:  1987
  7 in total
  11 in total

1.  Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency.

Authors:  G T Berry; T Fukao; G A Mitchell; A Mazur; M Ciafre; J Gibson; N Kondo; M J Palmieri
Journal:  J Inherit Metab Dis       Date:  2001-10       Impact factor: 4.982

2.  Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Authors:  Hideo Sasai; Yuka Aoyama; Hiroki Otsuka; Elsayed Abdelkreem; Yasuhiro Naiki; Mitsuru Kubota; Yuji Sekine; Masatsune Itoh; Mina Nakama; Hidenori Ohnishi; Ryoji Fujiki; Osamu Ohara; Toshiyuki Fukao
Journal:  J Inherit Metab Dis       Date:  2017-07-10       Impact factor: 4.982

3.  Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidation.

Authors:  David G Cotter; Rebecca C Schugar; Anna E Wentz; D André d'Avignon; Peter A Crawford
Journal:  Am J Physiol Endocrinol Metab       Date:  2012-12-11       Impact factor: 4.310

4.  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.

Authors:  Toshiyuki Fukao; Tomohiro Ishii; Naoko Amano; Petri Kursula; Masaki Takayanagi; Keiko Murase; Naomi Sakaguchi; Naomi Kondo; Tomonobu Hasegawa
Journal:  J Inherit Metab Dis       Date:  2010-07-21       Impact factor: 4.982

5.  A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene.

Authors:  Daniel J Zheng; Michael Hooper; Michele Spencer-Manzon; Richard W Pierce
Journal:  J Pediatr Intensive Care       Date:  2017-07-19

6.  Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.

Authors:  S Kassovska-Bratinova; T Fukao; X Q Song; A M Duncan; H S Chen; M F Robert; C Pérez-Cerdá; M Ugarte; C Chartrand; S Vobecky; N Kondo; G A Mitchell
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

7.  Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblasts.

Authors:  C J Pretorius; G G Loy Son; F Bonnici; E H Harley
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

8.  Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.

Authors:  Shanti Balasubramaniam; Barry Lewis; Lawrence Greed; David Meili; Annegret Flier; Raina Yamamoto; Karmen Bilić; Claudia Till; Jörn Oliver Sass
Journal:  JIMD Rep       Date:  2015-11-26

Review 9.  Ketone body metabolism and its defects.

Authors:  Toshiyuki Fukao; Grant Mitchell; Jörn Oliver Sass; Tomohiro Hori; Kenji Orii; Yuka Aoyama
Journal:  J Inherit Metab Dis       Date:  2014-04-08       Impact factor: 4.982

10.  A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Authors:  Naeem Shafqat; Kate L Kavanagh; Jörn Oliver Sass; Ernst Christensen; Toshiyuki Fukao; Wen Hwa Lee; Udo Oppermann; Wyatt W Yue
Journal:  J Inherit Metab Dis       Date:  2013-02-19       Impact factor: 4.982
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