Fast atom bombardment mass spectrometry in the diagnosis of cerebrotendinous xanthomatosis
Author:
Publisher
Informa UK Limited
Subject
Clinical Biochemistry,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.3109/00365518509155241
Reference23 articles.
1. Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid.
2. Identification of pentahydroxy bile alcohols in cerebrotendinous xanthomatosis: characterization of 5β-cholestane-3α, 7α, 12α, 24xi, 25-pentol and 5β-cholestane-3α, 7α, 12α, 23xi, 25-pentol
3. Occurrence of bile alcohol glucuronides in bile of patients with cerebrotendinous xanthomatosis
4. A Biochemical Abnormality in Cerebrotendinous Xanthomatosis IMPAIRMENT OF BILE ACID BIOSYNTHESIS ASSOCIATED WITH INCOMPLETE DEGRADATION OF THE CHOLESTEROL SIDE CHAIN
5. Identification of (23S)-5β-cholestane-3α,7α,12α,23,25-pentol in cerebrotendinous xanthomatosis1,2
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1. Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols;Journal of Clinical Lipidology;2024-05
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