Related references
Note: Only part of the references are listed.The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies
Aad Verrips et al.
NEUROLOGICAL SCIENCES (2020)
Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review
Chia-Wei Lee et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2019)
Case 271: Metronidazole-induced Encephalopathy
Yankai Sun et al.
RADIOLOGY (2019)
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
Bianca M. L. Stelten et al.
NEUROLOGY (2019)
Cerebrotendinous xanthomatosis: The rare treatable disease you never consider
Gerald V. Raymond et al.
NEUROLOGY (2019)
Cerebrotendinous xanthomatosis - A case report
Arshed Hussain Parry et al.
INDIAN JOURNAL OF RADIOLOGY AND IMAGING (2019)
A Preventable Ataxia: Cerebrotendinous Xanthomatosis
Bhagya Shaji et al.
ANNALS OF INDIAN ACADEMY OF NEUROLOGY (2019)
Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline
A. Nambirajan et al.
CYTOPATHOLOGY (2018)
Imaging in Maple Syrup Urine Disease
Tanay Shah et al.
INDIAN JOURNAL OF PEDIATRICS (2018)
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing
Hayato Tada et al.
INTERNAL MEDICINE (2018)
Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene
Akari Sasamura et al.
INTERNAL MEDICINE (2018)
Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole
Ted Weissfeld et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2018)
Neuromyelitis Optica Spectrum Disorders: Spectrum of MR Imaging Findings and Their Differential Diagnosis
Bruna Garbugio Dutra et al.
RADIOGRAPHICS (2018)
Liver transplantation due to cerebrotendinous xanthomatosis end-stage liver disease
Cong-Huan Shen et al.
WORLD JOURNAL OF PEDIATRICS (2018)
Cerebrotendinous xanthomatosis presenting with extensive cerebral cortex symptoms: A case report
Akihiro Mukaino et al.
CLINICAL NEUROLOGY AND NEUROSURGERY (2018)
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series
Denes Zadori et al.
NEUROLOGICAL SCIENCES (2017)
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
Gerald Salen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression
Andrea Mignarri et al.
JOURNAL OF NEUROLOGY (2017)
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract
Mohamed S. Abdel-Hamid et al.
METABOLIC BRAIN DISEASE (2017)
Case 239: Cerebrotendinous Xanthomatosis
Amy C. Gerrish et al.
RADIOLOGY (2017)
Dentate Update: Imaging Features of Entities That Affect the Dentate Nucleus
K. M. Bond et al.
AMERICAN JOURNAL OF NEURORADIOLOGY (2017)
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment
Ahmad Alhariri et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Differentiating neuromyelitis optica from other causes of longitudinally extensive transverse myelitis on spinal magnetic resonance imaging
Yeliz Pekcevik et al.
MULTIPLE SCLEROSIS JOURNAL (2016)
Differentiating neuromyelitis optica from other causes of longitudinally extensive transverse myelitis on spinal magnetic resonance imaging
Yeliz Pekcevik et al.
MULTIPLE SCLEROSIS JOURNAL (2016)
Late-onset spinal form xanthomatosis without brain lesion: a case report
Masaru Yanagihashi et al.
BMC NEUROLOGY (2016)
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis
Shilpa D. Kulkarni et al.
INDIAN PEDIATRICS (2016)
An unusual cause of Achilles tendon xanthoma
Fabienne Parente et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2016)
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion
Ryuta Abe et al.
JOURNAL OF SPINAL CORD MEDICINE (2016)
Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: A case report
Evelien Luyckx et al.
CLINICAL NEUROLOGY AND NEUROSURGERY (2014)
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
Shuke Nie et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDH apheresis
MT Dotti et al.
NEUROLOGICAL SCIENCES (2004)
Cerebrotendinous xanthomatosis: Clinical manifestations, diagnostic criteria, pathogenesis, and therapy
A Federico et al.
JOURNAL OF CHILD NEUROLOGY (2003)
Cerebrotendinous xanthomatosis:: The spectrum of imaging findings and the correlation with neuropathologic findings
F Barkhof et al.
RADIOLOGY (2000)