Cerebrotendinous Xanthomatosis

1. Cerebrotendinous Xantomatosis (CTX): general review and history of the research on its pathogenesis and therapy.- 2. CerebroTendinous Xanthomatosis (CTX) in Italy.- 3. CTX in The Netherlands.- 4. CTX in Brazil.- 5. Cerebrotendinous xanthomatosis in France.- 6.CTX in Japan.- 7. Cerebrotendinous Xanthomatosis: remaining challenges and the need for international collaboration.- 8. Genetics of CTX.- 9. General Overview Biochemistry with Focus on Clinical Laboratory.- 10. Focus on CTX Cases Identified with Atypical Biochemistry.- 11.Cholestanol accumulation in the brain and eye in cerebrotendinous xanthomatosis.- 12. Role of Bile Acid Pathway Intermediates in Pathology of CTX.- 13. Overview of Neuroimaging in Cerebrotendinous Xanthomatosis Diagnosis.- 14. Novel tools for neuroimaging in cerebrotendinous xanthomatosis.- 15. Epidemiology of Cerebrotendinous Xanthomatosis.- 16. Chenodeoxycholic acid treatment in the italian cohort of CTX patients.- 17. Long-term treatment effect in CTX depends on age at treatment.- 18.Can we improve outcomes? Lessons taken from the Israeli CTX Cohort.- 19. Treatment during Pregnancy in CTX.- 20. Cerebrotendinous xanthomatosis (CTX) presenting as neonatal cholestasis, its diagnosis and treatment with primary bile acids, cholic and chenodeoxycholic acids.- 21. Cholic acid treatment in adults with cerebrotendinous xanthomatosis.-
22. Gene Therapy for CTX.- 23. CTX Pediatric presentation.- 24. Ophthalmic manifestation in CTX.- 25. Update on Newborn Screening for Cerebrotendinous Xanthomatosis.- 26. Early treatment improves outcomes for patients with cerebrotendinous xanthomatosis (CTX).- 27. Cerebrotendinous Xanthomatosis Patient and Family Opinions and International CTX Patient Advocacy.

• Erscheinungsdatum: 19.10.2025
• Autor/Autorin: Antonio Federico
• Reihe: Medicine (R0)
• Format: E-Book
• Dateiformat: PDF
• Kopierschutz: Wasserzeichen
• Dateigröße: 28.5 MB
• Verlag: SPRINGER
• Sprache: Englisch
• Umfang: 350 Seiten
• ISBN: 9783031925269
• Lieferung: Sofort per Download
• Hinweis: Sofort per Download lieferbar. Kein physischer Versand.
• Kompatibilität: Lesbar auf Geräten und Apps mit PDF-Unterstützung.