Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
新生儿原发性肉碱缺乏症筛查:哪些人将受益?——一项回顾性队列研究
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109206
Crefcoeur, Loek; Ferdinandusse, Sacha; van der Crabben, Saskia N; Dekkers, Eugènie; Fuchs, Sabine A; Huidekoper, Hidde; Janssen, Mirian; Langendonk, Janneke; Maase, Rose; de Sain, Monique; Rubio, Estela; van Spronsen, Francjan J; Vaz, Frédéric Maxime; Verschoof, Rendelien; de Vries, Maaike; Wijburg, Frits; Visser, Gepke; Langeveld, Mirjam