A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency
辅酶Q10生物合成途径的一种新型先天性缺陷：由COQ5 C-甲基转移酶缺乏引起的共济失调和静止性脑肌病
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23345
Malicdan, May Christine V; Vilboux, Thierry; Ben-Zeev, Bruria; Guo, Jennifer; Eliyahu, Aviva; Pode-Shakked, Ben; Dori, Amir; Kakani, Sravan; Chandrasekharappa, Settara C; Ferreira, Carlos R; Shelestovich, Natalia; Marek-Yagel, Dina; Pri-Chen, Hadass; Blatt, Ilan; Niederhuber, John E; He, Langping; Toro, Camilo; Taylor, Robert W; Deeken, John; Yardeni, Tal; Wallace, Douglas C; Gahl, William A; Anikster, Yair
