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First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk |
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| Authors: | C. Perez-Cerda B. Merinero A. Jimenez M. J. García P. Sanz L. Ulst R. J. A. Wanders Professor M. Ugarte |
| Affiliation: | 1. Dpto Biologia Molecular, Centro de Biologia Molecular, Facultad de Ciencias, Universidad Autónoma de Madrid, 28049 Madrid, Spain;2. Department of Pediatrics, University Hospital Amsterdam, AMC, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands |
| 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: | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Fatty acid β-oxidation Prenatal diagnosis |