A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis.-Reference-Cited by-同舟云学术

A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis.

Published:1994-04 Issue:4 Volume:35 Page:663-668
ISSN:0022-2275
Container-title:Journal of Lipid Research
language:en
Short-container-title:Journal of Lipid Research

Author:

Nakashima N.,Sakai Y.,Sakai H.,Yanase T.,Haji M.,Umeda F.,Koga S.,Hoshita T.,Nawata H.

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference31 articles.

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2. Familial diseases with storage of sterols other than cholesterol: cerebrotendinous xanthomatosis and sitosterolemia with xanthomatosis In The Metabolic Basis of Inherited Disease. 5th ed.;Salen,1983

3. Cerebrotendinous xanthomatosis;Menkes;The storage of cholestanol within the nervous system. Arch. Neurol.,1968

4. Cholestanolosis (cerebrotendinous xanthomatosis);Philippart;A follow-up study on the original family. Arch. Neurol.,1969

5. Cholestanol deposition in cerebrotendinous xanthomatosis;Salen;A possible mechanism. Ann. Intern. Med.,1971

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