@article{oai:twinkle.repo.nii.ac.jp:00024791,
 author = {YANAGISHITA, Tomoe and YAMAMOTO-SHIMOJIMA, Keiko and KOIKE, Takayoshi and NASU, Hirosato and TAKAHASHI, Yukitoshi and AKIYAMA, Tomoyuki and NAGATA, Satoru and YAMAMOTO, Toshiyuki},
 journal = {Tokyo Women's Medical University Journal},
 month = {Dec},
 pages = {73--77},
 title = {Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy},
 volume = {3},
 year = {2019}
}