A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency

Peker A., YAKUT UZUNER S., ALTIOK CLARK Ö., Dal Demirelli G., Akcan Paksoy B., Soyuçen E., ...More

Molecular Syndromology, pp.1-14, 2025 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Publication Date: 2025
  • Doi Number: 10.1159/000548834
  • Journal Name: Molecular Syndromology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Page Numbers: pp.1-14
  • Keywords: Genetic variants, Hyperphenylalaninemia, Metabolism, PAH, Phenylketonuria, Sapropterin, Tetrahydrobiopterin
  • Akdeniz University Affiliated: Yes