Clinical and Radiological Findings of a Cerebrotendinous Xanthomatosis Patient with a Novel p.A335V Mutation in the <i>CYP27A1</i> Gene-Reference-Cited by-同舟云学术

Clinical and Radiological Findings of a Cerebrotendinous Xanthomatosis Patient with a Novel p.A335V Mutation in the CYP27A1 Gene

Published:2014 Issue:23 Volume:53 Page:2725-2729
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Yoshinaga Tsuneaki¹,Sekijima Yoshiki¹,Koyama Shingo²,Maruyama Keiko³,Yoshida Toshikazu³,Kato Takeo²,Ikeda Shu-ichi¹

Affiliation:

1. Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan

2. Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, Japan

3. Department of Medicine (Internal Medicine and Neurology), Fujimi Kogen Medical and Welfare Center, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/53/23/53_53.2996/_pdf

Reference27 articles.

1. 1. Cali JJ, Hsieh CL, Francke U, Russell DW. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266: 7779-7783, 1991.

2. 2. Cali JJ, Russell DW. Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. J Biol Chem 266: 7774-7778, 1991.

3. 3. Moghadasian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clin Invest Med 27: 42-50, 2004.

4. 4. Kuriyama M, Fujiyama J, Yoshidome H, et al. Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature. J Neurol Sci 102: 225-232, 1991.

5. 5. Verrips A, Hoefsloot LH, Steenbergen GC, et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 123: 908-919, 2000.

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