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Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.
Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, Lu Y, Yanagishita T, Shimada S, Chong PF, Kira R, Ueda R, Ishiyama A, Takeshita E, Momosaki K, Ozasa S, Akiyama T, Kobayashi K, Oomatsu H, Kitahara H, Yamaguchi T, Imai K, Kurahashi H, Okumura A, Oguni H, Seto T, Okamoto N. Yamamoto T, et al. Among authors: akiyama t. Brain Dev. 2019 Oct;41(9):776-782. doi: 10.1016/j.braindev.2019.05.007. Epub 2019 Jun 4. Brain Dev. 2019. PMID: 31171384
A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations.
Dowa Y, Shiihara T, Akiyama T, Hasegawa K, Inoue F, Watanabe M. Dowa Y, et al. Among authors: akiyama t. Oxf Med Case Reports. 2020 May 6;2020(3):omaa008. doi: 10.1093/omcr/omaa008. eCollection 2020 Mar. Oxf Med Case Reports. 2020. PMID: 32395249 Free PMC article.
Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.
Akiyama T, Hyodo Y, Hasegawa K, Oboshi T, Imai K, Ishihara N, Dowa Y, Koike T, Yamamoto T, Shibasaki J, Shimbo H, Fukuyama T, Takano K, Shiraku H, Takeshita S, Okanishi T, Baba S, Kubota M, Hamano SI, Kobayashi K. Akiyama T, et al. Pediatr Neurol. 2020 Dec;113:33-41. doi: 10.1016/j.pediatrneurol.2020.08.020. Epub 2020 Sep 2. Pediatr Neurol. 2020. PMID: 32980745 Free article.
2,506 results