Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports

Author:

Di Taranto Maria Donata,Gelzo Monica,Giacobbe Carola,Gentile Marco,Marotta Gennaro,Savastano Silvia,Dello Russo Antonio,Fortunato Giuliana,Corso Gaetano

Funder

Ministero dell'Istruzione, dell'Università e della Ricerca-Rome

Regione Campania

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry

Reference17 articles.

1. Batta AK, Shefer S, Batta M, Salen G (1985) Effect of chenodeoxycholic acid on biliary and urinary bile acids and bile alcohols in cerebrotendinous xanthomatosis; monitoring by high performance liquid chromatography. J Lipid Res 26:690–698

2. Björkhem I (2013) Cerebrotendinous xanthomatosis. Curr Opin Lipidol 24:283–287. doi: 10.1097/MOL.0b013e328362df13

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

4. Corso G, Gelzo M, Barone R, Clericuzio S, Pianese P, Nappi A, Dello Russo A (2011) Sterol profiles in plasma and erythrocyte membranes in patients with smith-Lemli-Opitz syndrome: a six-year experience. Clin Chem Lab Med 49:2039–2046. doi: 10.1515/CCLM.2011.689

5. D’Apolito O, Pianese P, Salvia G, Campanozzi A, Pettoello-Mantovani M, Dello Russo A, Corso G (2010) Plasma levels of conjugated bile acids in newborns after a short period of parenteral nutrition. JPEN J Parenter Enteral Nutr 34:538–541. doi: 10.1177/0148607110374059

Cited by 22 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3