Clinical and biochemical features, molecular diagnosis and long-term management of a case of cerebrotendinous xanthomatosis-Reference-Cited by-同舟云学术

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Clinical and biochemical features, molecular diagnosis and long-term management of a case of cerebrotendinous xanthomatosis

Published:2001-04 Issue:1-2 Volume:306 Page:63-69
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Burnett John R,Moses Esther A,Croft Kevin D,Brown Andrew J,Grainger Keith,Vasikaran Samuel D,Leitersdorf Eran,Watts Gerald F

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference22 articles.

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

2. Characterization of the human sterol 27-hydroxylase: a mitochondrial P-450 that catalyzes multiple oxidation reactions in bile acid biosynthesis;Cali;J. Biol. Chem.,1991

3. A biochemical abnormality in cerebrotendinous xanthomatosis: impairment of bile acid synthesis associated with incomplete degradation of the cholesterol side chain;Setoguchi;J. Clin. Invest.,1974

4. Clinical and biochemical findings in a patient with phytosterolaemia;Watts;Ann. Clin. Biochem.,1992

5. 7-Hydroperoxycholesterol and its products in oxidized low density lipoprotein and human atherosclerotic plaque;Brown;J. Lipid Res.,1997

Cited by 28 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

1. The clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish population;Journal of Clinical Lipidology;2024-08

2. Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review;Brain Sciences;2023-06-22

3. Features of the metabolic syndrome and subclinical atherosclerosis in patients with cerebrotendinous xanthomatosis: An augmented risk for premature cardiovascular disease;Frontiers in Genetics;2022-09-27

4. First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century;Clinical Genetics;2021-11-24

5. Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments;Journal of Atherosclerosis and Thrombosis;2021-09-01

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