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

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology

双等位基因TMEM126B变异是肾衰竭的新病因——对肾脏病学线粒体基因检测的启示

Sentell, Zachary T; Cheung, Anthony C T; Russo, Felicia; Bernard, Chantal; Suri, Rita; Cybulsky, Andrey V; Buhas, Daniela; Kitzler, Thomas M

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.

采用多种方法确诊疑似过氧化物酶体生物合成障碍患者

Cheung Anthony C T, Di Pietro Erminia, Argyriou Catherine, Bareke Eric, D'Souza Yasmin, Puri Ratna Dua, Muhammed Shabeer P, Ganetzky Rebecca, Goldstein Amy, Vanderver Adeline, Mohan Shruthi, Majewski Jacek, Yergeau Christine, Braverman Nancy

Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial

脱氧胞苷/脱氧胸苷联合疗法治疗POLG相关疾病的安全性和有效性:一项开放标签、单臂II期试验的6个月中期结果

Pekeles, Heather; Berrahmoune, Saoussen; Dassi, Christelle; Cheung, Anthony C T; Gagnon, Tommy; Waters, Paula J; Eberhard, Ralf; Buhas, Daniela; Myers, Kenneth A