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A new case of succinyl-CoA: Acetoacetate transferase deficiency

✍ Scribed by C. Pérez-Cerdá; B. Merinero; P. Sanz; A. Jiménez; C. Hernández; M. J. Garcia; M. Ugarte

Publisher
Springer
Year
1992
Tongue
English
Weight
176 KB
Volume
15
Category
Article
ISSN
0141-8955

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Succinyl-CoA:3-ketoacid CoA transferase
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese siblings
✍ 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

PRENATAL DIAGNOSIS OF SUCCINYL-COENZYME
PRENATAL DIAGNOSIS OF SUCCINYL-COENZYME A:3-KETOACID COENZYME A TRANSFERASE DEFICIENCY
✍ TOSHIYUKI FUKAO; XIANG-QIAN SONG; HIROH WATANABE; KEN HIRAYAMA; HIROMI SAKAZAKI; 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 332 KB 👁 2 views

Succinyl-CoA.3-ketoacid CoA transferase (SCOT) deficiency is a rare disorder of ketone body catabolism. In the present study, we prenatally diagnosed SCOT deficiency in a fetus in a family of which the proband was the first patient with SCOT deficiency identified in Japan, by analysis of enzyme acti