LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE IN CHORIONIC VILLI, FETAL LIVER AND FIBROBLASTS AND PRENATAL-DIAGNOSIS OF 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY

被引：3
|
作者：
VONDOBELN, U [1 ]
VENIZELOS, N [1 ]
WESTGREN, M [1 ]
HAGENFELDT, L [1 ]
机构：
[1] HUDDINGE UNIV HOSP,KAROLINSKA INST,DEPT OBSTET & GYNAECOL,S-14186 HUDDINGE,SWEDEN
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1994年 / 17卷 / 02期
关键词：
D O I：
10.1007/BF00711615
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency was performed by analysis of the enzyme activity in a chorionic villus biopsy obtained in the 10th week of pregnancy. The diagnosis was confirmed in liver tissue and cultured fibroblasts from the aborted fetus.
引用
收藏
页码：185 / 188
页数：4
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