Session Details
[P12]一般演題(ポスター)12 代謝性疾患・神経変性疾患
Thu. Jun 5, 2025 1:40 PM - 2:30 PM JST
Thu. Jun 5, 2025 4:40 AM - 5:30 AM UTC
Thu. Jun 5, 2025 4:40 AM - 5:30 AM UTC
ポスター会場
[P12-01]Siblings of SMA type 2 treated with nusinersen
○Reina Ogata, Yukie Yasunaga, Kyoko Watanabe (NHO Kokura Medical Center)
[P12-02]Mechanism of megacephalic leukoencephalopathy with subcortical cysts (MLC) using genome editing technology
○Keiko Shimojima1,2, Naoko Sangu3, Rina Shimomura4,5, Toshiyuki Yamamoto2,4 (1.Tokyo, Japan, 2.Tokyo, Japan, 3.Tokyo, Japan, 4.Tokyo, Japan, 5.Tokyo, Japan)
[P12-03]An infant with methylenetetrahydrofolate reductase deficiency of brain atrophy, developmental delay and pancytopenia
○Naoto Goto, Toru Takaori, Yuki Hyodo, Kei Kumakura, Mitsutaka Shiota (Medical Research Institute KITANO HOSPITAL, PIIF Tazuke-kofukai, Osaka, Japan)
[P12-04]Brain abnormalities in three long-term survivors of infantile Pompe disease on enzyme replacement therapy
○Sakurako Yamamoto1, Ryunosuke Nomura1, Ko Hirata1, Hideaki Mashimo2, Ai Hoshino1, Hirofumi Kashii1, Akihiko Ishiyama1, Mitsumasa Fukuda1, Satoko Kumada1 (1.Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Japan, 2.Department of Pediatrics, Teikyo University Hospital, Japan)
[P12-05]Questionnaire survey on challenges and needs for transition to adulthood in Glut1 deficiency syndrome
○Yuriko Ogawa1, Yasushi Ito1,2, Hidetsugu Nakatsukasa1, Satoru Nagata1, Hirokazu Oguni3 (1.Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, Tokyo, Japan, 2.Research Department of Pediatric and Maternal Health, Aiiku Research Institute, Aiiku Maternal & Child Health Center, Tokyo, Japan, 3.Epilepsy Center, TMG Asaka Medical Center, Saitama, Japan)
[P12-06]Miglustat therapy in a patient of fetal Niemann-Pick disease type C
○Tomomi Ogata, Mari Hashimoto, Tokuyasu Arakawa, Minoru Shinagawa, Takumi Takizawa (Department of Pediatrics, Graduate School of Medicine, Gunma University, Maebashi, Japan)