Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings-Reference-Cited by-同舟云学术

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Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

Published:2021-01-08 Issue:1 Volume:59 Page:3-9
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Guenzel Adam J.¹^ORCID,DeBarber Andrea²,Raymond Kimiyo¹,Dhamija Radhika³

Affiliation:

1. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA

2. Department of Chemical Physiology and Biochemistry Oregon Health and Science University Portland Oregon USA

3. Department of Clinical Genomics and Neurology Mayo Clinic Scottsdale Arizona USA

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12197

Reference31 articles.

1. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

2. Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood

3. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes

4. Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

5. Spinal phenotype of cerebrotendinous xanthomatosis

Cited by 10 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

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

5. A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels;Journal of Clinical Lipidology;2023-11

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