https://scholars.lib.ntu.edu.tw/handle/123456789/565459
標題: | CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening | 作者: | WEN-CHIN WENG Hsu, Yu-Kan Chang, Fu-Man Lin, Chun-Yen WUH-LIANG HWU WANG-TSO LEE NI-CHUNG LEE YIN-HSIU CHIEN |
關鍵字: | SMA type; compound motor action potential (CMAP); incidence; nusinersen; outcome | 公開日期: | 2021 | 卷: | 23 | 期: | 2 | 來源出版物: | Genetics in medicine : official journal of the American College of Medical Genetics | 摘要: | Early identification and treatment of spinal muscular atrophy (SMA) are crucial but difficult. In this study, we aimed to assess the significance of compound motor action potential (CMAP) amplitude in patients identified through a newborn screening program. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/565459 | ISSN: | 10983600 | DOI: | 10.1038/s41436-020-00987-w | SDG/關鍵字: | survival motor neuron protein 2; action potential; amplitude modulation; Article; clinical evaluation; clinical feature; compound motor action potential; controlled study; disease exacerbation; gene deletion; genetic variability; health care access; human |
顯示於: | 醫學系 |
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