Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause
致命性新生儿酸中毒:多组学研究发现一种新型HIBCH变异体是其根本原因
期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101223
Patel, Sonali; Zain-Ul-Abideen, Muhammad; Guyol, Genevieve; Rodan, Lance H; Genetti, Casie A; Ren, Amy Z; Connors, Philip; Davenport, Patricia; Bartolome, Ruby; Sahai, Inderneel; Ganesh, Vijay S; Wojcik, Monica H