高危妊娠中长链3-羟酰基辅酶A脱氢酶缺乏症产前诊断的首例报告。
First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk.
作者信息
Pérez-Cerdá C, Merinero B, Jiménez A, García M J, Sanz P, Ijlst L, Wanders R J, Ugarte M
机构信息
Dpto Biología Molecular, Facultad de Ciencias, Universidad Autónoma de Madrid, Spain.
出版信息
Prenat Diagn. 1993 Jun;13(6):529-33. doi: 10.1002/pd.1970130616.
PMID:8372080
Abstract
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.
摘要
对一个有风险的家庭进行了长链3-羟基酰基辅酶A脱氢酶（3-HAD）缺乏症的产前诊断。通过对培养的绒毛膜绒毛细胞进行酶分析来诊断受影响的胎儿。
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