Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
N-棕榈酰-O-磷酸胆碱丝氨酸在尼曼-匹克C型疾病的诊断和治疗反应评估中的应用
期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2020.01.007
Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J; Farhat, Nicole Y; Do, An Ngoc Dang; Porter, Forbes D; Berry-Kravis, Elizabeth; Vite, Charles H; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenço, Charles M; Bodamer, Olaf; Wang, Raymond Y; Plummer, Ellen; Schaffer, Jean E; Ory, Daniel S; Jiang, Xuntian