Expanding the clinical and genetic spectrum of PCYT2-related disorders.
作者信息
Vélez-Santamaría Valentina, Verdura Edgard, Macmurdo Colleen, Planas-Serra Laura, Schlüter Agatha, Casas Josefina, Martínez Juan José, Casasnovas Carlos, Si Yue, Thompson Stephanie S, Maroofian Reza, Pujol Aurora
机构信息
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Neuromuscular Unit, Department of Neurology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain.
出版信息
Brain. 2020 Sep 1;143(9):e76. doi: 10.1093/brain/awaa229.
PMID:32889549
Abstract
摘要
Zotero 插件