Literature DB >> 8372080

First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk.

C Pérez-Cerdá1, B Merinero, A Jiménez, M J García, P Sanz, L Ijlst, R J Wanders, M Ugarte.   

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.

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8372080     DOI： 10.1002/pd.1970130616

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  1 in total

1.  Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  U von Döbeln; N Venizelos; M Westgren; L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.