Literature DB >> 1405472

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

C Pérez-Cerdá1, B Merinero, P Sanz, A Jiménez, C Hernández, M J García, M Ugarte.   

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Year:  1992        PMID： 1405472     DOI： 10.1007/bf02435979

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


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  5 in total

1.  The oxoacyl-coenzyme A thiolases of animal tissues.

Authors:  B Middleton
Journal:  Biochem J       Date:  1973-04       Impact factor: 3.857

2.  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

3.  Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia.

Authors:  J V Leonard; B Middleton; J W Seakins
Journal:  Pediatr Res       Date:  1987-02       Impact factor: 3.756

4.  3-Ketothiolase deficiency.

Authors:  B Middleton; K Bartlett; A Romanos; J Gomez Vazquez; C Conde; R A Cannon; M Lipson; L Sweetman; W L Nyhan
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

Review 5.  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
  5 in total
  8 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.  A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency.

Authors:  H Sakazaki; K Hirayama; S Murakami; S Yonezawa; H Shintaku; Y Sawada; T Fukao; H Watanabe; T Orii; G Isshiki
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

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

Review 8.  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
  8 in total

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