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

SCN3A-related neurodevelopmental disorder: Clinical case reports and biophysical characterization

SCN3A相关神经发育障碍:临床病例报告和生物物理特征

Ghovanloo, Mohammad-Reza; Gershome, Cynthia; van der Lee, Robin; Drogemoller, Britt; Zhang, Linhua; Matthews, Allison; Blydt-Hansen, Ingrid; Nikkel, Sarah M; Demos, Michelle; Wasserman, Wyeth W; Ross, Colin J; van Karnebeek, Clara D; Ruben, Peter C

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

线粒体复合物III缺乏症伴酮症酸中毒和高血糖症,类似新生儿糖尿病

Anastasio, Natascia; Tarailo-Graovac, Maja; Al-Khalifah, Reem; Legault, Laurent; Drogemoller, Britt; Ross, Colin J D; Wasserman, Wyeth W; van Karnebeek, Clara; Buhas, Daniela