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

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan

新生儿筛查有助于早期诊疗并改善脊髓性肌萎缩症的预后:来自台湾的五年真实世界证据

Wang, Chen-Hua; Hsu, Ting-Rong; Liu, Mei-Ying; Wang, Li-Yun; Chou, I-Jun; Lee, Wang-Tso; Liang, Wen-Chen; Lee, Inn-Chi; Chen, Hsiao-Jan; Kao, Shu-Min; Ho, Hui-Chen; Niu, Dau-Ming; Hsiao, Kwang-Jen; Chang, Ming-Yuh; Hsieh, Hui-Min; Jong, Yuh-Jyh

Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan.

预测台湾新发现的五种 G6PD 变异的功能后果

Chiu Yen-Hui, Liu Yu-Ning, Chen Hsiao-Jan, Chang Ying-Chen, Kao Shu-Min, Liu Mei-Ying, Weng Ying-Yen, Hsiao Kwang-Jen, Liu Tze-Tze

Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients

中国甲基丙二酸尿症患者MUT基因突变谱

Liu, Mei-Ying; Liu, Tze-Tze; Yang, Yang-Ling; Chang, Ying-Chen; Fan, Ya-Ling; Lee, Shu-Fen; Teng, Yu-Ting; Chiang, Szu-Hui; Niu, Dau-Ming; Lin, Shio-Jean; Chao, Mei-Chun; Lin, Shuan-Pei; Han, Lian-Shu; Qi, Yu; Hsiao, Kwang-Jen