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Literature DB >> 9521962

Succinyl-CoA:3-ketoacid CoA-transferase deficiency.

S E Snyderman¹, C Sansaricq, B Middleton.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1998 PMID： 9521962 DOI： 10.1542/peds.101.4.709

Source DB: PubMed Journal: Pediatrics ISSN： 0031-4005 Impact factor: 7.124

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10 in total

1. A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity.

Authors: I Barić; V Sarnavka; K Fumić; M Maradin; D Begović; J P Ruiter; R J Wanders
Journal: J Inherit Metab Dis Date: 2001-02 Impact factor: 4.982

2. 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

3. 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

4. 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

5. 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

6. 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

Succinyl-CoA:3-ketoacid CoA-transferase deficiency.

1. A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity.

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

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

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

5. 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.

6. 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.

Review 7. Multi-dimensional Roles of Ketone Bodies in Fuel Metabolism, Signaling, and Therapeutics.

Review 8. Ketone body metabolism and cardiovascular disease.

Review 9. Ketone body metabolism and its defects.

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