Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Misako Naiki"'
Autor:
Kenichiro Yamada, Misako Naiki, Shin Hoshino, Yasuyuki Kitaura, Yusuke Kondo, Noriko Nomura, Reiko Kimura, Daisuke Fukushi, Yasukazu Yamada, Nobuyuki Shimozawa, Seiji Yamaguchi, Yoshiharu Shimomura, Kiyokuni Miura, Nobuaki Wakamatsu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 455-460 (2014)
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is an autosomal recessive disorder characterized by episodes of ketoacidosis and a Leigh-like basal ganglia disease, without high concentrations of pyruvate and lactate in the cerebrospinal fluid.
Externí odkaz:
https://doaj.org/article/aa771066eebf4225b498f08ee01ae9f9
Hippocampal diffusion abnormality after febrile status epilepticus is related to subsequent epilepsy
Autor:
Hiroyuki Kidokoro, Kazuya Itomi, Takeshi Tsuji, Masashi Morishita, Komei Ito, Atsuko Ohno, Tetsuo Kubota, Takashi Kawabe, Koichi Maruyama, Toru Kato, Misako Naiki, Tomohiko Nakata, Setsuri Yokoi, Jun Natsume, Hiroyuki Yamamoto
Publikováno v:
Epilepsia. 60(7)
Objective To assess hippocampal signal changes on diffusion-weighted imaging (DWI) during the acute period after febrile status epilepticus (FSE) and to examine the relationship between DWI and subsequent epilepsy. Methods A prospective, multicenter
Autor:
Seiji Mizuno, Nobuaki Wakamatsu, Nobuhiko Okamoto, Yoshio Makita, Kenichiro Yamada, Makoto Oshiro, Reiko Kimura, Misako Naiki, Yasukazu Yamada, Mariko Seishima
Publikováno v:
American Journal of Medical Genetics Part A. :97-102
BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies or small kidneys, with or without Hirschsp
Autor:
Hitoshi Sato, Ayako Hiraiwa-Sofue, Mitsugu Uematsu, Tetsuo Kubota, Jun Tohyama, Iori Ohmori, Akihisa Okumura, Megumi Tsuji, Akira Sudo, Tohru Okanishi, Misako Naiki, Shinji Saitoh, Toshiaki Shimizu, George Imataka, Manabu Tanaka
Publikováno v:
Epilepsia. 53:79-86
Summary Purpose: The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features of acute encephalopathy in children with Dravet syndrome. Methods: Through the mailing list of
Autor:
Jun Natsume, Seiko Itomi, Taro Yokotsuka, Misako Naiki, Tatsuya Fukasawa, Megumi Miyauchi, Ayako Sofue
Publikováno v:
Brain and Development. 30:211-214
Corticosteroids have been used only in the treatment of special epileptic syndromes or epileptic encephalopathies, such as infantile spasms. We report an antiepileptic effect of corticosteroids that were used for treatment of nephropathy in a monozyg
Autor:
Taketo Ikuta, Taro Yokotsuka, Ayako Sofue, Misako Naiki, Tamiko Negoro, Jun Natsume, Yoko Kondo
Publikováno v:
Brain and Development. 29:519-521
"Benign convulsions with mild gastroenteritis (CwG)" is recognized as a benign situation-related seizure. Neuroimaging studies usually do not reveal any abnormalities. We report MRI diffusion-weighted image (DWI) findings of two patients who were cli
Autor:
Noriko Nomura, Toshiyuki Kumagai, Yasukazu Yamada, Nobuaki Wakamatsu, Yoshishige Miyake, Kenichiro Yamada, Daisuke Fukushi, Reiko Kimura, Misako Naiki, Kumiko Yamaguchi
Publikováno v:
American journal of medical genetics. Part A. (4)
Xq28 duplication syndrome including MECP2 is a neurodevelopmental disorder characterized by axial hypotonia at infancy, severe intellectual disability, developmental delay, mild characteristic facial appearance, epilepsy, regression, and recurrent in
Autor:
Arisa Yamano, Yasukazu Yamada, Kiyoko Kaneko, Kenichiro Yamada, Noriko Nomura, Reiko Kimura, Nobuaki Wakamatsu, Misako Naiki, Shin Fujimori, Noriko Yamaoka, Atsuo Taniguchi, Daisuke Fukushi
Publikováno v:
Nucleosides, nucleotidesnucleic acids. 30(12)
Mutations of two enzyme genes, HPRT1 encoding hypoxanthine guanine phosphoribosyltransferase (HPRT) and PRPS1 encoding a catalytic subunit (PRS-I) of phosphoribosylpyrophosphate synthetase, cause X-linked inborn errors of purine metabolism. Analyzing
Autor:
Akihisa, Okumura, Mitsugu, Uematsu, George, Imataka, Manabu, Tanaka, Tohru, Okanishi, Tetsuo, Kubota, Akira, Sudo, Jun, Tohyama, Megumi, Tsuji, Iori, Ohmori, Misako, Naiki, Ayako, Hiraiwa-Sofue, Hitoshi, Sato, Shinji, Saitoh, Toshiaki, Shimizu
Publikováno v:
Epilepsia. 53(1)
The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features of acute encephalopathy in children with Dravet syndrome.Through the mailing list of the Annual Zao Conference o
Autor:
Arisa Yamano, Yasukazu Yamada, Noriko Nomura, Nobuaki Wakamatsu, S. Tomida, Reiko Kimura, Misako Naiki, Kenichiro Yamada
Publikováno v:
Nucleosides, nucleotidesnucleic acids. 29(4-6)
Inherited mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout. On the other hand, PRPS1 mutations cause PRPP synthetase superactivity associated with hyperuricemia and gout, someti