A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels-Reference-Cited by-同舟云学术

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A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels

Published:2023-11 Issue:6 Volume:17 Page:834-838
ISSN:1933-2874
Container-title:Journal of Clinical Lipidology
language:en
Short-container-title:Journal of Clinical Lipidology

Author:

Takahashi Manabu^ORCID,Okazaki Hiroaki^ORCID,Tada Hayato^ORCID,Ishibashi Shun^ORCID

Publisher

Elsevier BV

Reference18 articles.

1. Cerebrotendinous xanthomatosis: a practice review of pathophysiology, diagnosis, and treatment;Nóbrega;Front Neurol,2022

2. Cerebrotendinous xanthomatosis: molecular pathogenesis, clinical spectrum, diagnosis, and disease-modifying treatments;Koyama;J Atheroscler Thromb,2021

3. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX);Salen;J Inherit Metab Dis,2017

4. Diagnosis and management of sitosterolemia 2021;Tada;J Atheroscler Thromb,2021

5. Nationwide survey on cerebrotendinous xanthomatosis in Japan;Sekijima;J Hum Genet,2018

Cited by 3 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. Rare genetic cerebrotendinous xanthomatosis (CTX) cases without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas;Journal of Clinical Lipidology;2024-07

2. Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols;Journal of Clinical Lipidology;2024-05

3. Leveraging Clinical, Functional, Molecular and Population Genetic Data Reveals Genotype Phenotype Association and Health Disparity in a Monogenic Disorder, CTX;2024-04-16

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