Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes
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Title
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes
Authors
Keywords
-
Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume -, Issue -, Pages -
Publisher
Springer Nature
Online
2018-03-20
DOI
10.1007/s10545-018-0162-7
References
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Related references
Note: Only part of the references are listed.- Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
- (2017) Gerald Salen et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis
- (2017) Bianca M. L. Stelten et al. JOURNAL OF INHERITED METABOLIC DISEASE
- The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression
- (2017) Andrea Mignarri et al. JOURNAL OF NEUROLOGY
- Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment
- (2017) Marion Masingue et al. Orphanet Journal of Rare Diseases
- Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
- (2016) Bertrand Degos et al. Orphanet Journal of Rare Diseases
- Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis
- (2015) Andrea Mignarri et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes
- (2015) Vivek Appadurai et al. MOLECULAR GENETICS AND METABOLISM
- A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis
- (2014) Andrea Mignarri et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
- (2014) Shuke Nie et al. Orphanet Journal of Rare Diseases
- Neurological Outcome in Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid
- (2013) Gilad Yahalom et al. CLINICAL NEUROPHARMACOLOGY
- Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid
- (2012) F. Ginanneschi et al. JOURNAL OF NEUROLOGY
- Within-subject template estimation for unbiased longitudinal image analysis
- (2012) Martin Reuter et al. NEUROIMAGE
- Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey
- (2011) B. Pilo-de-la-Fuente et al. EUROPEAN JOURNAL OF NEUROLOGY
- An Introduction to Diffusion Tensor Image Analysis
- (2011) Lauren J. O’Donnell et al. NEUROSURGERY CLINICS OF NORTH AMERICA
- Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations
- (2010) Chiung-Chih Chang et al. BMC Neurology
- Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis
- (2010) A. Mignarri et al. JOURNAL OF NEUROLOGY
- Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis
- (2010) S. Guerrera et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Fast free-form deformation using graphics processing units
- (2009) Marc Modat et al. COMPUTER METHODS AND PROGRAMS IN BIOMEDICINE
- Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS/MS
- (2008) Akira Honda et al. JOURNAL OF LIPID RESEARCH
- Stereotaxic white matter atlas based on diffusion tensor imaging in an ICBM template
- (2008) Susumu Mori et al. NEUROIMAGE
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