Article

Vitamin B5 improves TANGO2 gene mutations associated defects

2023-12-01

Abstract excerpt

<h4>Background: </h4> Under-diagnosis is likely to be a problem in TANGO2- related disease, and the treatment strategies of it is unknow. Case presentation: We report a 7-year-old Chinese girl, who presented with epilepsy, developmental delay, neuroregression, and episodes of dyskinesia. In addition, she slipped into a coma four times after generalized tonic-clonic seizure. A trio whole exome sequencing revealed h...

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Literature Corpus work: 69789819-a69d-5482-85ab-c4a8e31d99b4
DOI: 10.21203/rs.3.rs-3659713/v1

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