• A case of cerebrotendinous xanthomatosis with massive xanthomas but without a considerable increase in serum cholestanol levels
• A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report
• A new CYP27A1 mutation in a case of cerebrotendinous xanthomatosis
• A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene
• A rare case of cerebrotendinous xanthomatosis with typical clinical & radiological features
• Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings
• Case report: Cerebrotendinous xanthomatosis treatment follow-up
• Case report: Cerebrotendinous xanthomatosis with a novel mutation in the <em>CYP27A1</em> gene mimicking behavioral variant frontotemporal dementia
• Cerebrotendinous Xanthomatosis
• Cerebrotendinous Xanthomatosis
• Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene
• Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report
• Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report
• Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report
• Cerebrotendinous Xanthomatosis, a Treatable Disorder Often Missed: Case Series of Three Patients Confirmed by Genetic Testing
• Cerebrotendinous Xanthomatosis: A Rare Etiology of the "Hot-Cross Bun" Sign
• Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis
• Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies
• Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients
• Cholestanol accelerates α-synuclein aggregation and spreading by activating asparagine endopeptidase
• Clinical and genetics characteristics of adult-onset cerebrotendinous xanthomatosis: analysis of a Chinese pedigree
• Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India
• Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals
• Clinical, electrophysiological, and genetic characteristics of cerebrotendinous xanthomatosis in South Korea
• Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil
• Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study
• Early diagnosis for cerebrotendinous xanthomatosis with juvenile cataract and family history
• Evolution and trends of childhood cataract research in the past 10 years: A scientometric analysis
• Frontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023
• Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols
• Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing
• Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options
• Indications for Systemic and Genetic Testing in Patients with Congenital Cataracts
• JOURNEY TO DIAGNOSIS WITH A RARE NEUROMETABOLIC DISEASE, CEREBROTENDINUS XANTOMATOSIS (VAN BOGÆRT DISEASE) AND CONCOMITANT PSYCHIATRIC SYMPTOMS
• Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives
• Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them
• Newborn screening for lipid disorders
• Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions
• Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review
• Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis
• Product development and quality of pharmacy compounded chenodeoxycholic acid capsules for Dutch cerebrotendinous xanthomatosis patients
• Rare genetic cerebrotendinous xanthomatosis cases (CTX) without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas
• Resection of bilateral massive Achilles tendon xanthomata with reconstruction using vascularized iliotibial tract: A case report and literature review
• Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to <em>CYP27A1</em> Gene Mutation with Chenodeoxycholic Acid Therapy
• Symptomatic Palatal Tremors in a Rare Treatable Neurometabolic Disorder: A Case Report
• The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis
• Treatment of cerebrotendinous xanthomatosis in pregnancy: Patient and physician perspectives