一例罕见的吡哆醇依赖性癫痫伴新型 ALDH7A1 突变.
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关键词: ADH7A1 Neonatal seizures Pyridoxine-dependent epilepsy
Mesh : Humans Epilepsy / genetics Mutation Aldehyde Dehydrogenase / genetics Male Female Pyridoxine / therapeutic use
来 源: DOI:10.1016/j.asjsur.2024.05.040