Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Satoshi Tsurui"'
Autor:
Kouichi Hirano, Takuya Hiraide, Yumiko Ohkubo, Tomoko Matsubayashi, Kaori Yamoto, Miki Asahina, Hirotomo Saitsu, Kumiko Yanagi, Hidetaka Yamada, Yohei Masunaga, Satoshi Tsurui, Mitsuko Nakashima, Yusaku Endoh, Tsutomu Ogata, Haruhiko Sugimura, Tokiko Fukuda
Publikováno v:
Clinical Genetics. 100(1):40-50
Whole-exome sequencing (WES) enables identification of pathogenic variants, including copy number variants (CNVs). In this study, we performed WES in 101 Japanese patients with unexplained developmental delay (DD) or intellectual disability (ID) (63
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f657312eaa8e2bc6e56f53abdb59a9ca
http://hdl.handle.net/10271/00004058
http://hdl.handle.net/10271/00004058
Autor:
Takuya Hiraide, Hidetaka Yamada, Hirotomo Saitsu, Kumiko Yanagi, Haruhiko Sugimura, Miki Asahina, Kaori Yamoto, Mitsuko Nakashima, Yusaku Endoh, Tokiko Fukuda, Tsutomu Ogata, Kouichi Hirano, Yumiko Ohkubo, Satoshi Tsurui, Yohei Masunaga, Tomoko Matsubayashi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::78c19daa8e0e351c5e9d976947cbac52
https://doi.org/10.1111/cge.13951/v2/response1
https://doi.org/10.1111/cge.13951/v2/response1
Autor:
Akiko Abe, Satoshi Tsurui, Soichiro Toda, Muneaki Matsuo, Hiroko Iwamatsu, Takuji Nakamura, Ayako Senju, Hidenori Tanaka, Takushi Inoue, Atsushi Kawaguchi, Ryutaro Kira, Tomomi Naitou, Kenji Furuno, Takafumi Sakakibara, Mitsuo Motobayashi, Marina Hashiguchi, Tatsuharu Sato, Naoya Higuchi, Nobuyoshi Sugiyama, Masami Togawa, Ken ichi Torii, Shigeki Ishii, Kazunari Takamura, Yuko Ichimiya, Fumio Ichinose
Publikováno v:
Braindevelopment. 44(1)
Objective To clarify the incidence and risk factors of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) in pediatric patients with febrile status epilepticus (FSE). Methods We retrospectively surveyed patients with FSE (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a53f1f21f0fc75207d8c7ce6602f6889
https://pubmed.ncbi.nlm.nih.gov/34362595
https://pubmed.ncbi.nlm.nih.gov/34362595
Autor:
Mitsuaki Kimura, Hidemasa Sakai, Isao Asakura, Ichiro Ohkawara, Tetsuya Fukuoka, Takaaki Meguro, Shiro Seto, Naoe Akiyama, Satoru Iwashima, Masaki Shimomura, Tsutomu Kamimaki, Masashi Harazaki, Satoshi Tsurui, Hideaki Morishita
Publikováno v:
Pediatrics International. 59:397-403
Background Prednisolone (PSL) has been suggested to be useful for the treatment of Kawasaki disease (KD) resistant to i.v. immunoglobulin (IVIG), but much remains to be elucidated regarding its use. Methods A total of 1087 subjects were involved in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa1d4a1e537d6ef2fccad155f421375
https://doi.org/10.1111/ped.13190
https://doi.org/10.1111/ped.13190
Autor:
Hiroyuki Kawamura, Yukino Matsui, Satoshi Tsurui, Hideo Sugie, Makoto Ogasawara, Hazumi Yamase, Mosataka Ito, Yoko Sugie
Publikováno v:
Developmental Medicine & Child Neurology. 37:362-365
The authors report a female with paroxysmal tonic upward gaze similar to the cases reported by Ouvrier and Billson (1988). She developed abnormal eye-movements at the age of six months. Several anticonvulsants and levodopa were not effective in the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3026fe30884465761b7c1ca28ce452f8
https://doi.org/10.1111/j.1469-8749.1995.tb12014.x
https://doi.org/10.1111/j.1469-8749.1995.tb12014.x
Autor:
Yoko Sugie, Tokiko Fukuda, Hiroaki Nakajima, Hideo Sugie, Satoshi Tsurui, Kouichi Hirano, Akimichi Ishikawa, Katsunori Shimizu, Hiroshi Sato, Masataka Ito
Publikováno v:
Brain and Development. 16:315-319
Microphotometric enzyme assay in single muscle fibers was performed on two patients with lactic acidosis. Neither case showed ragged red fibers upon histochemical evaluation. Biochemical analysis of mitochondrial enzymes demonstrated low normal cytoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::659b7545bda42a93dd6a10f473578c46
https://doi.org/10.1016/0387-7604(94)90030-2
https://doi.org/10.1016/0387-7604(94)90030-2
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 224(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f9a45a5b91428da79b89535a015c2ce
https://pubmed.ncbi.nlm.nih.gov/8174281
https://pubmed.ncbi.nlm.nih.gov/8174281
Autor:
Shunpei Annaka, Hideshi Tomita, Kimio Sasaki, Hideo Sugie, Shuji Wakai, Ryoji Minami, Mutsuko Tachi, Nobutada Tachi, Satoshi Tsurui
Publikováno v:
Pediatric neurology. 5(1)
We report a 5-year-old boy with lysosomal glycogen storage disease and normal acid maltase activity. This patient, the fourth reported in the literature, was referred to our hospital for evaluation of elevated serum GOT, GPT, and CK activities. He ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1e58347ef26812d56378c8b6dc61197
https://pubmed.ncbi.nlm.nih.gov/2496694
https://pubmed.ncbi.nlm.nih.gov/2496694
Autor:
Hideo Sugie, Reiko Miyamoto, Yoko Sugie, Makoto Suzuki, Mitsuhiro Nishida, Masataka Ito, Yoshio Igarashi, Satoshi Tsurui
Publikováno v:
Journal of child neurology. 4(2)
We report the case of an 11-year-old mentally retarded boy with recurrent myoglobinuria precipitated after a generalized tonic-clonic convulsion. No hemolysis was noted. Ischemic forearm test revealed no rise of venous lactate, suggesting a metabolic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d209d72e9e0e1e368329cdcba283418
https://pubmed.ncbi.nlm.nih.gov/2715616
https://pubmed.ncbi.nlm.nih.gov/2715616