𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by U. Döbeln; N. Venizelos; M. Westgren; L. Hagenfeldt

Publisher
Springer
Year
1994
Tongue
English
Weight
236 KB
Volume
17
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Paternal isodisomy of chromosome 2 as a
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
✍ Berivan Baskin; Michael Geraghty; Peter N. Ray 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 148 KB 👁 1 views

## Abstract Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the __HADHA__ gene. We report on a 22‐month‐old child who was identified on expanded newborn screening with an abnormal acylcarnitine

Acute fatty liver of pregnancy and long-
Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency
✍ William R. Treem; Piero Rinaldo; Daniel E. Hale; Charles A. Stanley; David S. Mi 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 762 KB

The pathogenesis of acute fatty liver of pregnancy is unknown, but similarities in the clinical presentation and the histological appearance of the liver with those found in children with metabolic defects in the intramitochondrial fboxidation pathway of the liver suggest that a disturbance in hepat