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Last Updated: 10/31/2025
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Found 866 publications
Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.
Journal: Cerebellum (London, England)
Published: August 05, 2025
Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report.
Journal: Journal of orthopaedic case reports
Published: June 24, 2025
Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.
Journal: Neurology international
Published: June 19, 2025
Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report.
Journal: Archives of endocrinology and metabolism
Published: June 18, 2025
Spotlight on timely diagnosis and treatment in subtle ataxia and spastic gait: Expert commentary.
Journal: Parkinsonism & related disorders
Published: June 10, 2025
Cerebrotendinous Xanthomatosis With a Heterozygous Frameshift Mutation Involving CYP27A1(C.526del).
Journal: JCEM case reports
Published: April 19, 2025
Regulatory News: Chenodiol for the Treatment of Cerebrotendinous Xanthomatosis: FDA Approval Summary.
Journal: Journal of inherited metabolic disease
Published: April 14, 2025
Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report.
Journal: Journal of medical case reports
Published: April 08, 2025
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.
Journal: Journal of inherited metabolic disease
Published: April 04, 2025
Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.
Journal: Journal of inherited metabolic disease
Published: March 26, 2025
Beyond the cataract: Comprehensive ophthalmologic and retinal imaging analysis in cerebrotendinous xanthomatosis.
Journal: Journal of clinical lipidology
Published: March 20, 2025
Last Updated: 10/31/2025