First report of prenatal diagnosis of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in a pregnancy at risk
- 1 June 1993
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 13 (6) , 529-533
- https://doi.org/10.1002/pd.1970130616
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.Keywords
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