https://scholars.lib.ntu.edu.tw/handle/123456789/596960
標題: | NAXE gene mutation-related progressive encephalopathy: A case report and literature review | 作者: | Chiu, Li-Wei Lin, Sheng-Shing Chen, Chieh-Ho Lin, Chien-Heng NI-CHUNG LEE Hong, Syuan-Yu Chou, I-Ching Lin, Chien-Lin Yang, Pei-Yu |
關鍵字: | case report; early onset; NAD(P)HX epimerase gene; neurometabolic disorder; progressive encephalopathy | 公開日期: | 22-十月-2021 | 出版社: | LIPPINCOTT WILLIAMS & WILKINS | 卷: | 100 | 期: | 42 | 來源出版物: | Medicine | 摘要: | Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 is an infantile, lethal neurometabolic disorder caused by a NAD(P)HX epimerase (NAXE) gene mutation. It is characterized by a fluctuating disease course with repeated episodes of improvement and regression. In this report, we present a rare case of NAXE gene mutation-related encephalopathy with unexpected neurological recovery and long survival time. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/596960 | ISSN: | 0025-7974 | DOI: | 10.1097/MD.0000000000027548 | SDG/關鍵字: | isomerase; NAXE protein, human; ubidecarenone; ubiquinone; vitamin B complex; brain disease; case report; dietary supplement; female; genetics; human; infant; pathophysiology; whole exome sequencing; Brain Diseases; Dietary Supplements; Female; Humans; Infant; Racemases and Epimerases; Ubiquinone; Vitamin B Complex; Whole Exome Sequencing |
顯示於: | 醫學系 |
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