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Biosynthesis of 5α-Cholestan-3β-ol in Cerebrotendinous Xanthomatosis
Cerebrotendinous Xanthomatosis is a rare, inherited disease characterized by an extraordinary accumulation of cholestanol in all tissues, xanthomatous deposits in the brain, lungs, and Achilles tendons, premature atherosclerosis, and low plasma cholesterol concentrations. In two patients with the di...
Shranjeno v:
| izdano v: | J Clin Invest |
|---|---|
| Main Authors: | , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society for Clinical Investigation
1972
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC332938/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4550120/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI106783 |
| Oznake: |
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