Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene-Reference-Cited by-同舟云学术

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Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene

Published:2017-11-28 Issue:6 Volume:283 Page:604-606
ISSN:0954-6820
Container-title:Journal of Internal Medicine
language:en
Short-container-title:J Intern Med

Author:

Jiao H.¹,Olin M.²,Hansson M.²,Eggertsen G.²,Eriksson M.³⁴,Angelin B.³⁴,Björkhem I.²^ORCID

Affiliation:

1. Clinical Research Centre; Department of Biosciences and Nutrition; Karolinska Institutet at Karolinska University Hospital; Huddinge Sweden

2. Division of Clinical Chemistry; Department of Laboratory Medicine; Karolinska Institutet at Karolinska University Hospital; Huddinge Sweden

3. Metabolism Unit; Center for Endocrinology, Metabolism and Diabetes; Karolinska Institutet at Karolinska University Hospital; Huddinge Sweden

4. Department of Medicine; KI/AZ Integrated CardioMetabolic Centre (ICMC); Karolinska Institutet at Karolinska University Hospital; Huddinge Sweden

Publisher

Wiley

Subject

Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/joim.12709/fullpdf

Reference5 articles.

1. Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge;Björkhem;Biochem Biophys Res Commun,2010

2. Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis;Mignarri;J Inherit Metab Dis,2016

3. Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase;Hansson;J Intern Med,2007

4. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in jews of Moroccan origin;Leitersdorf;J Clin Invest,1993

5. 27-hydroxycholesterol: does it exist?;Fakheri;Steroids,2012

Cited by 5 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. Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings;International Journal of Neuroscience;2023-12-28

2. Expanding the clinical spectrum of cerebrotendinous xanthomatosis: Implications for newborn screening, follow‐up and treatment;Journal of Internal Medicine;2021-03-24

3. Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review;World Journal of Clinical Cases;2020-11-06

4. Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling;Journal of Inherited Metabolic Disease;2020-02-07

5. Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis;Journal of Clinical Lipidology;2018-09

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