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Cerebrotendinous xanthomatosis

  • Published:2000-08 Issue:6 Volume:10 Page:407-414
  • ISSN:0960-8966
  • Container-title:Neuromuscular Disorders
  • language:en
  • Short-container-title:Neuromuscular Disorders

Author:

Verrips A,van Engelen B.G.M,ter Laak H,Gabreëls-Festen A,Janssen A,Zwarts M,Wevers R.A,Gabreëls F.J.M

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference56 articles.

1. Cerebrotendinous xanthomatosis: defective liver mitochondrial hydroxylation of chenodeoxycholic acid precursors;Oftebro;J Lipid Res,1981

2. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesteral;Björkhem,1995

3. 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;Wolthers;J Lipid Res,1991

4. Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography;Wolthers;Clin Chim Acta,1983

5. Cerebrotendinous xanthomatosis. Apropos of a case using magnetic resonance study of the brain and nerve biopsy;Amiel;Ann Med Intern Paris,1989

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