Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
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Title
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
Authors
Keywords
Cerebrotendinous xanthomatosis, Xanthoma, CYP27A1, Sterol 27-hydroxylase, Chenodeoxycholic acid, Cholic acid
Journal
Orphanet Journal of Rare Diseases
Volume 9, Issue 1, Pages -
Publisher
Springer Nature
Online
2014-11-26
DOI
10.1186/s13023-014-0179-4
References
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- Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid
- (2012) F. Ginanneschi et al. JOURNAL OF NEUROLOGY
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- (2012) Paola Caroppo et al. NEUROLOGICAL SCIENCES
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- Cerebrotendinous xanthomatosis: An inborn error in bile acid synthesis with defined mutations but still a challenge
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- Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations
- (2010) Chiung-Chih Chang et al. BMC Neurology
- SPECT Imaging for Brain Improvement Quantification in a Patient With Cerebrotendinous Xanthomatosis
- (2010) Albert Selva-OʼCallaghan et al. CLINICAL NUCLEAR MEDICINE
- Four novel CYP27A1 mutations in seven Italian patients with CTX
- (2010) G. N. Gallus et al. EUROPEAN JOURNAL OF NEUROLOGY
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