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A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency

✍ Scribed by H. Sakazaki; K. Hirayama; S. Murakami; S. Yonezawa; H. Shintaku; Y. Sawada; T. Fukao; H. Watanabe; T. Orii; G. Isshiki


Publisher
Springer
Year
1995
Tongue
English
Weight
186 KB
Volume
18
Category
Article
ISSN
0141-8955

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πŸ“œ SIMILAR VOLUMES


Succinyl-CoA:3-ketoacid CoA transferase
✍ Xiang-Qian Song; Toshiyuki Fukao; Hiroh Watanabe; Haruo Shintaku; Ken Hirayama; πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 412 KB πŸ‘ 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
✍ TOSHIYUKI FUKAO; XIANG-QIAN SONG; HIROH WATANABE; KEN HIRAYAMA; HIROMI SAKAZAKI; πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 332 KB πŸ‘ 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

CT findings in a case of deficiency of 3
✍ G. Lisson; D. Leupold; D. Bechinger; C. Wallesch πŸ“‚ Article πŸ“… 1981 πŸ› Springer 🌐 English βš– 551 KB

Two CT scans have been performed on a child with a biochemically confirmed 3-HMG-CoA-lyase deficiency. Macrocephalus, widespread hypodensity of the white matter with cystic alterations and progressive dilatation of the ventricles were found. The clinical features and CT findings are surprisingly sim