| Yazarlar (32) |
Tanyel Zubarioglu
İstanbul University-Cerrahpaşa Cerrahpaşa Faculty of Medicine, Turkey |
|
Banu Kadıoğlu-Yılmaz
Selçuk Üniversitesi, Turkey |
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Engin Köse
Ankara Üniversitesi, Turkey |
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Pelin Teke-Kısa
Dokuz Eylül Üniversitesi, Turkey |
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Mehmet Cihan Balcı
İstanbul Tıp Fakültesi, Turkey |
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Havva Yazıcı
Ege University Medical School, Turkey |
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Burcu Özturk-Hişmi
Marmara Üniversitesi Tip Fakültesi, Turkey |
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Abdurrahman Akgün
Firat Üniversitesi Tip Fakültesi, Turkey |
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Deniz Kor
Çukurova Üniversitesi Tip Fakültesi, Turkey |
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Sevil Yıldız
University of Health Sciences, Turkey |
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Gonca Kılıç-Yıldırım
Eskişehir Osmangazi Üniversitesi, Turkey |
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Erdoğan Soyuçen
Akdeniz University, Faculty of Medicine, Turkey |
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Aylin Akçalı
Gaziantep Üniversitesi, Turkey |
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Yılmaz Yıldız
Hacettepe Üniversitesi, Turkey |
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Aslı Durmuş
University of Health Sciences, Turkey |
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Dilek Güneş
Bağcilar Eğitim ve Araştirma Hastanesi, Turkey |
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Pembe Soylu-Üstkoyuncu
University of Health Sciences, Turkey |
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Çiğdem Seher Kasapkara
Ankara Yildirim Beyazit University, Turkey |
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Şahin Erdöl
Bursa Uludağ Üniversitesi, Turkey |
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Emine Göksoy
Aydin Adnan Menderes University, Turkey |
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Halil Tuna Akar
Ankara Etlik City Hospital, Turkey |
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Haluk Gümüş
Selçuk Üniversitesi, Turkey |
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Ahmet Hakan Ekmekçi
Selçuk Üniversitesi, Turkey |
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Fatma Tuba Eminoğlu
Ankara Üniversitesi, Turkey |
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Nur Arslan
Dokuz Eylül Üniversitesi, Turkey |
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Haşmet Ayhan Hanağası
İstanbul Tıp Fakültesi, Turkey |
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Ebru Canda
Ege University Medical School, Turkey |
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Emine Genç
Marmara Üniversitesi Tip Fakültesi, Turkey |
Prof. Dr. Işıl ÖZER
Kafkas Üniversitesi, Türkiye |
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Ayşegül Gündüz
İstanbul University-Cerrahpaşa Cerrahpaşa Faculty of Medicine, Turkey |
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Ertuğrul Kıykım
İstanbul University-Cerrahpaşa Cerrahpaşa Faculty of Medicine, Turkey |
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Çiğdem Aktuğlu-Zeybek
İstanbul University-Cerrahpaşa Cerrahpaşa Faculty of Medicine, Turkey |
| 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 | Uluslararası alan indekslerindeki dergilerde yayımlanan tam makale |
| Dergi Adı | Journal of inherited metabolic disease |
| Dergi ISSN | 0141-8955 Wos Dergi Scopus Dergi |
| Dergi Tarandığı Indeksler | |
| Makale Dili | İngilizce |
| Basım Tarihi | 07-2025 |
| Cilt No | 48 |
| Sayı | 4 |
| Doi Numarası | 10.1002/jimd.70069 |
| Atıf Sayıları |
