1ST REPORT OF PRENATAL-DIAGNOSIS OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY IN A PREGNANCY AT RISK

被引：12
|
作者：
PEREZCERDA, C
MERINERO, B
JIMENEZ, A
GARCIA, MJ
SANZ, P
IJLST, L
WANDERS, RJA
UGARTE, M
机构：
[1] UNIV AUTONOMA MADRID, FAC CIENCIAS, CTR BIOL MOLEC, DEPT BIOL MOLEC, E-28049 MADRID, SPAIN
[2] UNIV HOSP AMSTERDAM, AMC, DEPT PEDIAT, 1105 AZ AMSTERDAM, NETHERLANDS
来源：
PRENATAL DIAGNOSIS | 1993年 / 13卷 / 06期
关键词：
LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY; FATTY ACID BETA-OXIDATION; PRENATAL DIAGNOSIS;
D O I：
10.1002/pd.1970130616
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (3-HAD) deficiency was performed in a family at risk. The diagnosis of an affected fetus was carried out by enzyme assay in cultured chorionic villus cells.
引用
收藏
页码：529 / 533
页数：5
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