Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design
苯丙酮尿症的基因型-表型相关性:PAH 变异体和 BH4 反应性在治疗设计中的应用
期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-026-00936-9
Karaca, Meryem; Gedikbasi, Asuman; Selamioğlu, Arzu; Yesil, Alihan; Toksoy, Guven; Gulec, Cagri; Balci, Mehmet Cihan; Güneş, Dilek; Yıldırım, Behiye Tuğçe; Kına, Gizem; Karaman, Volkan; Aslanger, Ayca Dilruba; Karaman, Birsen; Demirkol, Mubeccel; Uyguner, Zehra Oya; Gokcay, Gulden Fatma