Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
人类 COQ4 缺乏症:描述临床、代谢和神经影像学表型
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2021-107729
Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Rebecca Buchert, Ruth Falb, Darja Gauck, Amelie Müller, Mona Grimmel, Stefanie Beck-Woedel, Jan Kern, Karim Daliri, Pegah Katibeh, Katharina Danhauser, Steffen Leiz, Viola Alesi, Fabian Baertling, Gessica Vasco, Robert Stei