一种用于测定培养细胞中支链酮酸脱羧作用的快速方法及其在枫糖尿症产前诊断中的应用。
A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease.
作者信息
Fensom A H, Benson P F, Baker J E
出版信息
Clin Chim Acta. 1978 Jul 1;87(1):169-74. doi: 10.1016/0009-8981(78)90072-4.
PMID:668138
Abstract
A sensitive assay for measurement of branched-chain keto acid decarboxylation in small numbers of fibroblasts or amniotic cells grown in the wells of a microtitre plate using [1-14C]leucine as substrate is described. The method was applied to the amniotic cells from a pregnancy at risk for maple syrup urine disease and a heterozygous fetus predicted.
摘要
本文描述了一种灵敏的检测方法，该方法以[1-¹⁴C]亮氨酸为底物，用于测量微量滴定板孔中培养的少量成纤维细胞或羊膜细胞中的支链酮酸脱羧作用。该方法应用于患有枫糖尿症风险妊娠的羊膜细胞，并对一个杂合子胎儿进行了预测。
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