Session Details
[O24]一般演題(口演)24 代謝性疾患・変性疾患①
Fri. Jun 6, 2025 4:40 PM - 5:40 PM JST
Fri. Jun 6, 2025 7:40 AM - 8:40 AM UTC
Fri. Jun 6, 2025 7:40 AM - 8:40 AM UTC
第6会場
座長:濱﨑 考史(大阪公立大学大学院医学研究科発達小児医学),衞藤 薫(東京女子医科大学附属足立医療センター小児科)
[O24-01]Real-World Assessment of Onasemnogene Abeparvovec in Patients with SMA: Interim report of RESTORE in Japan
○Kayoko Saito1, Misako Sano2, Kamal Benguerba3, Ken Tsuchida2, Rie Teshima2, Sandra P. Reyna4, Omar Dabbous4, Richard S. Finkel5 (1.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 2.Novartis Pharma K.K., Tokyo, Japan, 3.Novartis Gene Therapies Switzerland GmbH, Rotkreuz, Switzerland, 4.Novartis Gene Therapies, Inc., Bannockburn, IL, USA;, 5.Center for Experimental Neurotherapeutics, St.Jude Childrens Research Hospital, Memphis, TN, USA)
[O24-02]Sibling cases of PNPT1 gene variants presenting with MELAS-like symptoms
○Tomoko Tamada1, Yuji Fujii1, Moe Tamaura1, Shinji Itamura1, Kei Murayama2,3 (1.Department of Pediatrics, Hiroshima City Funairi Citizens Hospital, Hiroshima, Japan, 2.Department of Pediatrics, Juntendo University, Tokyo, Japan, 3.Diagnostics and Thrapeutics of Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan)
[O24-03]A case of Gaucher disease type 2 treated with dexamethasone palmitate for respiratory failure
○Sadao Nakamura, Shingo Kurokawa, Shougo Nakada, Wataru Shimabukuro, Noriko Nakayama, Kazuya Hamada, Takuya Kaneshi, Noriko Kinjyo, Yasutugu Chinen, Koichi Nakanishi (Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan)
[O24-04]Problem identification and revision of conventional diagnostic criteria and categories in Glut1 deficiency syndrome
○Yasushi Ito1,2, Shin Nabatame3, Hirokazu Oguni4, Satoru Takahashi5, Jun Natsume6, Keiko Yanagihara7, Kuriko Shimono8, Tatsuya Fujii9, Kimitoshi Nakamura10 (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.Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., 4.Epilepsy Center, TMG Asaka Medical Center, Saitama, Japan, 5.Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan., 6.Department of Developmental Disability Medicine, Nagoya University Graduate School of Medicine, Aichi, Japan., 7.Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Osaka, Japan, 8.Department of Child Development, United Graduate School of Child Development, Osaka University, Osaka, Japan, 9.Shiga Medical Center for Children, Shiga, Japan, 10.Department of Pediatrics, Kumamoto University, Graduate School of Medical Sciences)
[O24-05]Congenital Disorders of Glycosylation diagnosed in Japan
○Nobuhiko Okamoto1,2, Yoshinao Wada2,3 (1.Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan, 2.Research Institute, Department of Molecular Medicine, Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan, 3.Department of Obstetric Medicine, Osaka Women's and Children's Hospital, Osaka, Japan)
[O24-06]A case of juvenile dentatorubral-pallidoluysian atrophy (DRPLA) with repeated rapid regression and spontaneous recovery
○Manami Yabe1, Mitsuo Motobayashi2, Shino Shimada3, Mitsuhiro Miyashita1, Tomona Yabe1, Akihiro Iguchi1, Satoshi Mizutani1, Yu Tsuyusaki1, Tokito Yamaguchi1, Hideyuki Ohtani1, Katsumi Imai1 (1.Department of Pediatrics, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan, 2.Department of Pediatric Neurology, Nagano Children's hospital, Nagano, Japan, 3.Department of Clinical Genetics, Graduate School of Medicine, Juntendo University, Tokyo, Japan)