Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.


Karaca M., Gedikbasi A., Selamioğlu A., Yesil A., Toksoy G., Gulec Ç., ...More

Human genomics, 2026 (SCI-Expanded, Scopus) identifier

  • Publication Type: Article / Article
  • Volume:
  • Publication Date: 2026
  • Doi Number: 10.1186/s40246-026-00936-9
  • Journal Name: Human genomics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE, Directory of Open Access Journals
  • Istanbul University Affiliated: Yes