Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

doi:10.1016/j.ymgme.2024.108493

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Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Molecular genetics and metabolism - 1 Jun 2024

Zubarioglu Tanyel, Kıykım Ertuğrul, Köse Engin, Eminoğlu Fatma Tuba, Teke Kısa Pelin, Balcı Mehmet Cihan, Özer Işıl, İnci Aslı, Çilesiz Kübra, Canda Ebru, Yazıcı Havva, Öztürk-Hişmi Burcu, Bulut Fatma Derya, Dorum Sevil, Akgun Abdurrahman, Yalçın-Çakmaklı Gül, Kılıç-Yıldırım Gonca, Soyuçen Erdoğan, Akçalı Aylin, Güneş Dilek, Durmuş Aslı, Gündüz Ayşegül, Kasapkara Çiğdem Seher, Göksoy Emine, Akar Halil Tuna, Ersoy Melike, Erdöl Şahin, Yıldız Yılmaz, Hanağası Haşmet Ayhan, Arslan Nur, Aktuğlu-Zeybek Çiğdem

Abstract excerpt

OBJECTIVE: Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this retrospective, descriptive study was to explore the time of presentation and diagnosis, and to expand the phenotype and genotype of CTX, based on a nationwide and comprehensive series of patients in Turkey. METHODS: The demographic, clinical,...

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Identifiers

PMID: 38772327
DOI: 10.1016/j.ymgme.2024.108493

Genes

CYP27A1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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