PRENATAL DIAGNOSIS OF SUCCINYL-COENZYME
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TOSHIYUKI FUKAO; XIANG-QIAN SONG; HIROH WATANABE; KEN HIRAYAMA; HIROMI SAKAZAKI;
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Article
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1996
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John Wiley and Sons
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English
โ 332 KB
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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