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小児における酵素誘導抗てんかん薬が脂質および骨代謝に及ぼす影響
Early rituximab therapy for paraneoplastic opsoclonus-myoclonus syndrome
Takayuki Mori1, Yu Kakimoto1, Satoshi Takenaka1, Konomi Shimoda1, Atsushi Sato1, Akira Oka1, Yukitoshi Takahashi2, Masashi Mizuguchi3
1Department of Pediatrics, the University of Tokyo Hospital, 2National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorder, 3Department of Developmental Medical Sciences, Graduate School of Medicine, the University of Tokyo
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 276-279, 2022.
1Department of Pediatrics, the University of Tokyo Hospital, 2National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorder, 3Department of Developmental Medical Sciences, Graduate School of Medicine, the University of Tokyo
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 276-279, 2022.
- アブストラクト: 従量制は110円(税込)、基本料金制は基本料金に含まれます。
- 全文ダウンロード: 従量制、基本料金制の方共に770円(税込) です。
5. GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease
Hirokazu Takeuchi1, Norimichi Higurashi1, Yurika Toga1, Hiroshi Kawame2, Tadashi Kaname3, Yuichiro Nonaka4, Satoshi Matsushima5
1Department of Pediatrics, 2Department of Clinical Genetics, Jikei University School of Medicine, 3Department of Genome Medicine, National Center for Child Health and Development, 4Department of Neurosurgery, 5Department of Radiology, Jikei University School of Medicine
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 290-290, 2022.
1Department of Pediatrics, 2Department of Clinical Genetics, Jikei University School of Medicine, 3Department of Genome Medicine, National Center for Child Health and Development, 4Department of Neurosurgery, 5Department of Radiology, Jikei University School of Medicine
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 290-290, 2022.
- 全文ダウンロード: 従量制、基本料金制の方共に121円(税込) です。
6. A TUBB4A M363T variant in pediatric hypomyelinating leukodystrophy without basal ganglia atrophy
Marina Hashiguchi1, Yukifumi Monden1, Yasuyuki Nozaki1,3, Kazuki Watanabe2, Mitsuko Nakashima2, Hirotomo Saitsu2, Takanori Yamagata1, Hitoshi Osaka1
1Department of Pediatrics, Jichi Medical University, 2Department of Biochemistry, Hamamatsu University School of Medicine, 3Department of Pediatrics, Shin-Oyama City Hospital
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 291-291, 2022.
1Department of Pediatrics, Jichi Medical University, 2Department of Biochemistry, Hamamatsu University School of Medicine, 3Department of Pediatrics, Shin-Oyama City Hospital
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 291-291, 2022.
- 全文ダウンロード: 従量制、基本料金制の方共に121円(税込) です。
7. A case of GR1N1-related neurodevelopmental disorder who presented stereotypy as initial symptom
Wataru Jinnai1, Msayuki Sasaki1, Shinpei Baba1, Noriko Sumitomo1, Eri Takeshita1, Yuko Shimizu-Motohashi1, Akihiko Ishiyama1, Takashi Saito1, Yukiko Osawa2, Hirofumi Komaki1,3, Eiji Nakagawa1
1Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), 2Department of Pediatrics, Tama-Hokubu Medical Center, Tokyo Metropolitan Health and Medical Treatment Corporation, 3Tranlational Medical Center, NCNP
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 291-291, 2022.
1Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), 2Department of Pediatrics, Tama-Hokubu Medical Center, Tokyo Metropolitan Health and Medical Treatment Corporation, 3Tranlational Medical Center, NCNP
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 291-291, 2022.
- 全文ダウンロード: 従量制、基本料金制の方共に121円(税込) です。
8. A one-year boy with recurrent high temperature accompanied by tremor of the extremities and unconsciousness, diagnosed as Angelman syndrome (AS) : A case report
Kanae Nemoto1, Tomoko Takamatsu1, Jumpei Oiwa1, Kanako Hayashi1, Hidekuni Takahashi1, Mika Takeshita1, Shinichiro Morichi1, Yu Ishida1, Soken Go1, Shingo Oana1, Gaku Yamanaka1, Yasuyo Kashiwagi1, Hironao Numabe1,2, Hisashi Kawashima1,2
1Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 2Clinical Genetics center, Tokyo Medical University Hospital
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 291-291, 2022.
1Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 2Clinical Genetics center, Tokyo Medical University Hospital
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 291-291, 2022.
- 全文ダウンロード: 従量制、基本料金制の方共に121円(税込) です。
9. A boy with abnormal craniofacial features and motor developmental delay having a 2.1 Mb microdeletion on 10q24.32q25.1
Kazuhiko Hashimoto1, Eri Takeshita1, Noriko Sumitomo1, Shimpei Baba1, Yuko Shimizu-Motohashi1, Akihiko Ishiyama1, Takashi Saito1, Hirofumi Komaki1,2, Eiji Nakagawa1, Yukiko Ueta3, Hiroki Hoshino3, Ken Inoue4, Masayuki Sasaki1, Yu-ichi Goto4,5
1Department of Child Neurology, 2Translational Medical Center, National Center Hospital National Center of Neurology and Psychiatry (NCNP), 3Department of Pediatrics, Toho University Omori Medical Center, 4Department of Mental Retardation and Birth Defect Research, 5Medical Genome Center, NCNP
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 291-291, 2022.
1Department of Child Neurology, 2Translational Medical Center, National Center Hospital National Center of Neurology and Psychiatry (NCNP), 3Department of Pediatrics, Toho University Omori Medical Center, 4Department of Mental Retardation and Birth Defect Research, 5Medical Genome Center, NCNP
NO TO HATTATSU (Official Journal of The Japanese Society of Child Neurology) 54 (4) 291-291, 2022.
- 全文ダウンロード: 従量制、基本料金制の方共に121円(税込) です。