Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro
扩大 SLC25A42 相关疾病的遗传和临床谱,并检测泛酸以提高体外 CoA 水平
期刊:JIMD Reports
影响因子:
doi:10.1002/jmd2.12441
Katharina Heckmann, Arcangela Iuso, Janine Reunert, Marianne Grüneberg, Anja Seelhöfer, Stephan Rust, Giuseppe Fiermonte, Eleonora Paradies, Carmela Piazzolla, Manoj Mannil, Thorsten Marquardt