Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.
作者信息
von Döbeln U, Venizelos N, Westgren M, Hagenfeldt L
机构信息
Department of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, Sweden.
出版信息
J Inherit Metab Dis. 1994;17(2):185-8. doi: 10.1007/BF00711615.
PMID:7967472
Abstract
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.
摘要
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