| Yazarlar (1) |
Prof. Dr. Işıl ÖZER
Kafkas Üniversitesi, Türkiye |
| Özet |
| Cerebrotendinous xanthomatosis (CTX) is a treatable neurometabolic disorder. Chenodeoxycholic acid (CDCA) is the first‐line treatment and can potentially halt disease progression if initiated before neurologic symptoms appear. This nationwide, multicenter study evaluates the long‐term effects of treatment in 86 genetically confirmed patients with CTX receiving CDCA for ≥ 6 months, focusing on neurologic and extraneurologic outcomes, prognostic factors, and biochemical response. Clinical and biochemical parameters were recorded at baseline and follow‐up, and neurological outcomes were assessed using neurological disability scores. Our results indicate a critical age of 28 years for the start of treatment. Patients diagnosed before 28 years showed 100% neurological stabilization or improvement, whereas patients diagnosed later had a higher rate of disease progression (p < 0.05). CDCA effectively ... |
| Anahtar Kelimeler |
| cerebrotendinous | chenodeoxycholic acid | CYP27A1 | prognosis | xanthomatosis |
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale |
| Dergi Adı | Journal of Inherited Metabolic Disease |
| Dergi ISSN | 0141-8955 Wos Dergi Scopus Dergi |
| Dergi Tarandığı Indeksler | |
| Dergi Grubu | Q2 |
| Makale Dili | İngilizce |
| Basım Tarihi | 07-2025 |
| Cilt No | 48 |
| Sayı | 4 |
| Doi Numarası | 10.1002/jimd.70069 |
| Atıf Sayıları | |
| Google Scholar | 1 |
