∆(4)-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid
∆(4)-3-氧代-5β-还原酶缺乏症：16例接受胆酸治疗的患者预后良好
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02984-z
Gardin, Antoine; Ruiz, Mathias; Beime, Jan; Cananzi, Mara; Rathert, Margarete; Rohmer, Barbara; Grabhorn, Enke; Almes, Marion; Logarajah, Veena; Peña-Quintana, Luis; Casswall, Thomas; Darmellah-Remil, Amaria; Reyes-Domínguez, Ana; Barkaoui, Emna; Hierro, Loreto; Baquero-Montoya, Carolina; Baumann, Ulrich; Fischler, Björn; Gonzales, Emmanuel; Davit-Spraul, Anne; Laplanche, Sophie; Jacquemin, Emmanuel
