Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023 [0.03%]
脑磷脂缺陷障碍的诊断延迟：来自横断面单中心研究的经验教训以及2015年至2023年在瑞士测量的胍基乙酸和creatine的数据分析
Background: Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved...