Cerebrotendinous Xanthomatosis: The Spectrum of Imaging Findings and the Correlation with Neuropathologic Findings

Author:

Barkhof Frederik,Verrips Aad,Wesseling Pieter,van der Knaap Marjo S.,van Engelen Baziel G. M.,Gabreëls Fons J. M.,Keyser Antoine,Wevers Ron A.,Valk Jaap

Publisher

Radiological Society of North America (RSNA)

Subject

Radiology Nuclear Medicine and imaging

Reference41 articles.

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2. Oftebro H, Björkhem I, Stormer FC, Pedersen JI.Cerebrotendinous xanthomatosis: defective liver mitochondrial hydroxylation of chenodeoxycholic acid precursors.J Lipid Res1981; 22:632-640.

3. Björkhem I, Boberg KM.Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol.In: Scriver C, Beaudet AL, Sly WS, Valle D, eds.The metabolic and molecular basis of inherited disease.7th ed. New York, NY: McGraw-Hill, 1995; 2273-2299.

4. Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography

5. Wolthers BG, Walrecht HT, van der Molen JC, Nagel GT, Van Doormaal JJ, Wijnandts PN.Use of determinations of 7-lathosterol (5 alpha-cholest-7-en-3 beta-ol) and other cholesterol precursors in serum in the study and treatment of disturbances of sterol metabolism, particularly cerebrotendinous xanthomatosis.J Lipid Res1991; 32:603-612.

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