Assay of intermediates in bile acid biosynthesis using isotope dilution–mass spectrometry: hepatic levels in the normal state and in cerebrotendinous xanthomatosis.
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Endocrinology,Biochemistry
Reference26 articles.
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1. Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency;Journal of Lipid Research;2015-10
2. A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns;Journal of Lipid Research;2014-01
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5. Cerebrotendinous xanthomatosis: An inborn error in bile acid synthesis with defined mutations but still a challenge;Biochemical and Biophysical Research Communications;2010-05
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