Literature DB >> 11286388

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

I Barić1, V Sarnavka, K Fumić, M Maradin, D Begović, J P Ruiter, R J Wanders.   

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Year:  2001        PMID： 11286388     DOI： 10.1023/a:1005671109585

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


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  3 in total

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

Authors:  S E Snyderman; C Sansaricq; B Middleton
Journal:  Pediatrics       Date:  1998-04       Impact factor: 7.124

Review 2.  Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.

Authors:  K E Niezen-Koning; R J Wanders; J P Ruiter; L Ijlst; G Visser; W C Reitsma-Bierens; H S Heymans; D J Reijngoud; G P Smit
Journal:  Eur J Pediatr       Date:  1997-11       Impact factor: 3.183

3.  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 in total
  3 in total

1.  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

2.  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

Review 3.  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
  3 in total

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