A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma - PubMed
Cholestanols / isolation & purification Actions. * Search in PubMed * Search in MeSH * Add to Search ...
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder - PubMed
Cholestanols / blood* Actions. * Search in PubMed * Search in MeSH * Add to Search ...
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy - PubMed
Cholestanols / metabolism* Actions. * Search in PubMed * Search in MeSH * Add to Search ...
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis -...
Cholestanols / urine Actions. * Search in PubMed * Search in MeSH * Add to Search ...
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity - PubMed
Cholestanols / blood Actions. * Search in PubMed * Search in MeSH * Add to Search ...
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis - PubMed
Cholestanols / urine Actions. * Search in PubMed * Search in MeSH * Add to Search ...
Vitamin E attenuates induction of elastase-like activity by tumor necrosis factor-alpha, cholestan-3 beta,5 alpha,6 beta-triol...
Cholestanols / pharmacology* Actions. * Search in PubMed * Search in MeSH * Add to Search ...
Structural basis of steroid hormone perception by the receptor kinase BRI1 - PubMed
Cholestanols / chemistry Actions. * Search in PubMed * Search in MeSH * Add to Search ...
Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency...
Cholestanols / blood* Actions. * Search in PubMed * Search in MeSH * Add to Search ...