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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Neonatal manifestation at the first day of life presenting with tachypnoea

✍ Scribed by C. Thiel; S. Baudach; U. Schnackenberg; P. Vreken; R. J. A. Wanders


Book ID
110225446
Publisher
Springer
Year
1999
Tongue
English
Weight
37 KB
Volume
22
Category
Article
ISSN
0141-8955

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Long-chain L 3-hydroxyacyl-CoA dehydroge
✍ Otto, Lisa R.; Boriack, Richard L.; Marsh, Debbie J.; Kum, Jennifer B.; Eng, Cha πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 12 KB πŸ‘ 1 views

In order to test the hypothesis that longchain L 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is associated with the lipid myopathy and muscle carnitine deficiency observed in Bannayan-Riley-Ruvalcaba syndrome (BRRS), we studied the enzyme activity in cultured skin fibroblasts from thre