Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.


Köroğlu M., Karakaplan M., Gündüz E., Kesriklioğlu B., Ergen E., Aslantürk O., ...More

Orphanet journal of rare diseases, vol.19, no.1, pp.53, 2024 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 1
  • Publication Date: 2024
  • Doi Number: 10.1186/s13023-024-03082-4
  • Journal Name: Orphanet journal of rare diseases
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, MEDLINE, Directory of Open Access Journals
  • Page Numbers: pp.53
  • Inonu University Affiliated: Yes