Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase
蝶呤还原酶中一种新型致病突变家族的临床特征
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26073056
Mohamed, Feda E; Alzyoud, Lara; Ghattas, Mohammad A; Tabouni, Mohammed; Fienemann, André; Trinh, Joanne; Baydoun, Ibrahim; Kizhakkedath, Praseetha; Alblooshi, Hiba; Shaukat, Qudsia; Amouri, Rim; Farrer, Matthew J; Sassi, Samia Ben; Al-Jasmi, Fatma