| First Author | Aoyama T | Year | 1993 |
| Journal | Biochem Biophys Res Commun | Volume | 191 |
| Issue | 3 | Pages | 1369-72 |
| PubMed ID | 8466512 | Mgi Jnum | J:42861 |
| Mgi Id | MGI:1097964 | Doi | 10.1006/bbrc.1993.1368 |
| Citation | Aoyama T, et al. (1993) A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191(3):1369-72 |
| abstractText | Palmitoyl-CoA dehydrogenase activity in skin fibroblasts from seven patients with unidentified defects of fatty acid oxidation was measured in the presence and absence of antibodies against medium-chain, long-chain, and very-long-chain acyl-CoA dehydrogenases (VLCAD). Two of the patients, 4-5 month old boys, were found to have a novel disease, VLCAD deficiency, as judged from the results of very low palmitoyl-CoA dehydrogenase activity and the lack of immunoreactivity toward antibody raised to purified VLCAD. |
