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Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.
Taniguchi-Ikeda M, Morisada N, Inagaki H, Ouchi Y, Takami Y, Tachikawa M, Satake W, Kobayashi K, Tsuneishi S, Takada S, Yamaguchi H, Nagase H, Nozu K, Okamoto N, Nishio H, Toda T, Morioka I, Wada H, Kurahashi H, Iijima K. Taniguchi-Ikeda M, et al. Among authors: yamaguchi h. Clin Genet. 2018 Apr;93(4):931-933. doi: 10.1111/cge.13106. Epub 2017 Dec 15. Clin Genet. 2018. PMID: 29243230 No abstract available.
Early risk factors for mortality in children with seizure and/or impaired consciousness accompanied by fever without known etiology.
Tomioka K, Nagase H, Tanaka T, Nishiyama M, Yamaguchi H, Ishida Y, Toyoshima D, Maruyama A, Fujita K, Taniguchi-Ikeda M, Nozu K, Morioka I, Nishimura N, Kurosawa H, Uetani Y, Iijima K. Tomioka K, et al. Among authors: yamaguchi h. Brain Dev. 2018 Aug;40(7):552-557. doi: 10.1016/j.braindev.2018.02.015. Epub 2018 Mar 19. Brain Dev. 2018. PMID: 29567266
Fosphenytoin vs. continuous midazolam for pediatric febrile status epilepticus.
Nishiyama M, Nagase H, Tomioka K, Tanaka T, Yamaguchi H, Ishida Y, Toyoshima D, Fujita K, Maruyama A, Kurosawa H, Uetani Y, Nozu K, Taniguchi-Ikeda M, Morioka I, Takada S, Iijima K. Nishiyama M, et al. Among authors: yamaguchi h. Brain Dev. 2018 Nov;40(10):884-890. doi: 10.1016/j.braindev.2018.08.001. Epub 2018 Aug 23. Brain Dev. 2018. PMID: 30144969
Prevalence of Wilson disease based on genome databases in Japan.
Yamaguchi H, Nagase H, Tokumoto S, Tomioka K, Nishiyama M, Takeda H, Ninchoji T, Nagano C, Iijima K, Nozu K. Yamaguchi H, et al. Pediatr Int. 2021 Aug;63(8):918-922. doi: 10.1111/ped.14565. Epub 2021 Jul 16. Pediatr Int. 2021. PMID: 33260258
4,911 results