Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review

The Cerebellum 2026

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Authors: Kefang Du, Chunrong Wang, Linlin Wan, Zhao Chen, Hongyu Yuan, Qian Jiang, Xiao Dong, Daji Chen, Riwei Ouyang, Xiafei Long, Xiaokang Wu, Xinying Xiao
+3 more Ruqing He, Rong Qiu, Hong Mei Jiang
DOI: 10.1007/s12311-025-01955-3
Cited by: 1
References: 41

Fields of Study & Subjects

Cholesterol and Lipid Metabolism Peroxisome Proliferator-Activated Receptors Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Publication details

Journal / source
The Cerebellum
Publisher
Springer Science and Business Media LLC
Volume
25
Issue
1
Pages
9–9
Publication date
13 January 2026
Language
EN