Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening.


Akan G., Balcı M. C., Tuncel G., Karaca M., Kazan H. H., Özketen A. Ç., ...More

Orphanet journal of rare diseases, vol.20, no.1, pp.250, 2025 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 1
  • Publication Date: 2025
  • Doi Number: 10.1186/s13023-025-03775-4
  • 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.250
  • Istanbul University Affiliated: Yes