日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns

新生儿脑腱黄瘤病筛查:对 20,000 名新生儿进行流动注射和 UPLC-MS/MS 分析的回顾性生物标志物研究

Frédéric M Vaz, Youssra Jamal, Rob Barto, Michael H Gelb, Andrea E DeBarber, Ron A Wevers, Marcel R Nelen, Aad Verrips, Albert H Bootsma, Marelle J Bouva, Nick Kleise, Walter van der Zee, Tao He, Gajja S Salomons, Hidde H Huidekoper1

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

能量产生受损是否可以为因 ALDH7A1 双等位基因变异导致的吡哆醇依赖性癫痫的发病机制提供新的见解?

Anastasia Minenkova, Erwin E W Jansen, Jessie Cameron, Rob Barto, Thomas Hurd, Lauren MacNeil, Gajja S Salomons, Saadet Mercimek-Andrews