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Accumulation of oxygenated steryl esters in Wolman's disease
oleh: G. Assmann, D.S. Fredrickson, H.R. Sloan, H.M. Fales, R.J. Highet
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 1975-01-01 |
Deskripsi
7α- and 7β-hydroxycholesteryl esters, 7-ketocholesteryl esters, and 5,6α- and 5,6β-epoxycholesteryl esters have been identified in tissues of patients affected by Wolman's disease. Their structural identities were determined by mass spectroscopy and nuclear magnetic resonance spectroscopy and confirmed by chemical synthesis. It is postulated that cholesteryl ester hydrolase deficiency in Wolman's disease might lead to accumulation of oxygenated steryl esters in vivo and impairment of bile acid formation.