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Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-05-05 , DOI: 10.1111/cge.13763
Ali Mir 1 , Safeya Hadab 1 , Mohammed Sammak 2 , Rami Alhazmi 3 , Yousef Housawi 4 , Shahid Bashir 1, 5
Affiliation  



中文翻译:

用TIGA50基因突变引起的3-甲基谷氨酸酸尿症患者用vigabatrin完全消除了癫痫痉挛。

更新日期:2020-05-05
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