Increased nuchal translucency in a case of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Yazarlar (5)
| Makale Türü | Özgün Makale (SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale) | ||
| Dergi Adı | FETAL DIAGNOSIS AND THERAPY (Q3) | ||
| Dergi ISSN | 1015-3837 Dergi Bilgileri (2000) | ||
| Makale Dili | İngilizce | Basım Tarihi | 11-2000 |
| Kabul Tarihi | – | Yayınlanma Tarihi | 01-01-2000 |
| Cilt / Sayı / Sayfa | 15 / 6 / 322–325 | DOI | 10.1159/000021029 |
| Makale Linki | https://karger.com/article/doi/10.1159/000021029 | ||
| UAK Araştırma Alanları |
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| Özet |
| We present a case where the embryo showed an increased nuchal edema and a metabolic disorder. At 31 weeks of gestation the fetus developed a cardiomegaly and a hydrops. In this case, a long-chain 3-hydroxacyl-coenzyme A dehydrogenase deficiency (LCHAD deficiency) was confirmed by biochemical investigations in cultured chorionic villus cells and by DNA analysis. This metabolic disease causes a reduced production of mitochondrial trifunctional proteins and is a very rare autosomal-recessive disease. |
| Anahtar Kelimeler |
| LCHAD deficiency | nuchal edema | hydrops fetalis | prenatal diagnosis |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| Web of Science | 8 |
| PubMed | 1 |