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Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

✍ Scribed by Toshiyuki Fukao; Jörn Oliver Sass; Petri Kursula; Eva Thimm; Udo Wendel; Can Ficicioglu; Kamel Monastiri; Nathalie Guffon; Ivo Barić; Marie-therese Zabot; Naomi Kondo


Book ID
116270976
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
823 KB
Volume
1812
Category
Article
ISSN
0925-4439

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Succinyl-CoA:3-ketoacid CoA transferase
✍ Xiang-Qian Song; Toshiyuki Fukao; Hiroh Watanabe; Haruo Shintaku; Ken Hirayama; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 412 KB 👁 1 views

Succinyl-CoA:3-ketoacid CoA transferase (SCOT; EC 2.8.3.5; locus symbol OXCT) is the key enzyme of ketone body utilization. Hereditary SCOT deficiency (MIM 245050) causes episodes of severe ketoacidosis. We developed a transient expression system for mutant SCOT cDNAs, using immortalized SCOT-defici