Zobrazeno 1 - 10
of 359
pro vyhledávání: '"Tomoyuki AKIYAMA"'
Autor:
Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, Naohiro Yamamoto, Yumi Yamada, Kazuya Igarashi, Tomohiko Ishihara, Yuya Hatano, Katsuhiro Kobayashi
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 529-535 (2022)
Abstract Objective The use of folic acid (FA) has been discouraged in cerebral folate deficiency (CFD) because, theoretically, it could inhibit the transport of 5‐methyltetrahydrofolic acid (5MTHF) across the blood–cerebrospinal fluid (CSF) barri
Externí odkaz:
https://doaj.org/article/5777a91eae754e17a852a102daa09081
Autor:
Mitsuhiro Kato, Akiko Kada, Hideaki Shiraishi, Jun Tohyama, Eiji Nakagawa, Yukitoshi Takahashi, Tomoyuki Akiyama, Akiyoshi Kakita, Noriko Miyake, Atsushi Fujita, Akiko M. Saito, Yushi Inoue
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 2, Pp 181-192 (2022)
Abstract Objective To determine whether sirolimus, a mechanistic target of rapamycin (mTOR) inhibitor, reduces epileptic seizures associated with focal cortical dysplasia (FCD) type II. Methods Sixteen patients (aged 6–57 years) with FCD type II re
Externí odkaz:
https://doaj.org/article/a7c477d618ac4207af722c64a7c41046
Autor:
Yohei Sugiyama, Taijiro Watanabe, Makiko Tajika, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomohiro Ebihara, Tomoko Tsuruoka, Tomoyuki Akiyama, Kei Murayama
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. The severity of HPP is widely diverse from the perinatal form to the adult
Externí odkaz:
https://doaj.org/article/2b65bd7638f440329db877967df91b85
Autor:
Akihito Takeuchi, Takushi Inoue, Makoto Nakamura, Misao Kageyama, Tomoyuki Akiyama, Katsuhiro Kobayashi
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Fast oscillations (FOs) >40 Hz in electroencephalograms (EEGs) are associated with ictogenesis and epileptogenesis in adults and children with epilepsy. However, only a few previous studies showed FOs in neonates. Reported frequencies of such neonata
Externí odkaz:
https://doaj.org/article/cc91cdc5b0e5454f835cb4b162ce9024
Publikováno v:
Frontiers in Human Neuroscience, Vol 15 (2021)
AimRipple-band epileptic high-frequency oscillations (HFOs) can be recorded by scalp electroencephalography (EEG), and tend to be associated with epileptic spikes. However, there is a concern that the filtration of steep waveforms such as spikes may
Externí odkaz:
https://doaj.org/article/f1a5d3b95d5243a598d044fafba7a7b4
Autor:
Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Takayoshi Koike, Hirosato Nasu, Yukitoshi Takahashi, Tomoyuki Akiyama, Satoru Nagata, Toshiyuki Yamamoto
Publikováno v:
Tokyo Women's Medical University Journal, Vol 3, Iss 0, Pp 73-77 (2019)
Pyridoxine-dependent epilepsy (PDE) is an inherited disease with an autosomal recessive trait caused by deficiency of α-amino-adipic semialdehyde (AASA) dehydrogenase encoded by the ALDH7A1 gene. Pyridoxine administration is usually effective for th
Externí odkaz:
https://doaj.org/article/fc05f625b5dc49af910cf78bfea4b28c
Autor:
Ken Momosaki, Jun Kido, Shiro Matsumoto, Atsuo Taniguchi, Tomoyuki Akiyama, Takaaki Sawada, Shiro Ozasa, Kimitoshi Nakamura
Publikováno v:
Case Reports in Neurology, Vol 11, Iss 3, Pp 256-264 (2019)
Lesch-Nyhan disease (LND) is an X-linked recessive disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyl transferase. Patients with LND experience involuntary movements, including dystonia, choreoathetosis, opisthotonos, ballismus, a
Externí odkaz:
https://doaj.org/article/becb7fd719cb4fd69965bee3fd21cfed
Autor:
Hitomi Nishizawa, Yoshihiko Sato, Masumi Ishikawa, Yuko Arakawa, Mari Iijima, Tomoyuki Akiyama, Kyoko Takano, Atsushi Watanabe, Tomoki Kosho
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100643- (2020)
Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by
Externí odkaz:
https://doaj.org/article/da7aa63db0994ed9abb3d5997d5b9ff5
Autor:
Katsuyuki Yokoi, Yoko Nakajima, Yasuko Shinkai, Yoshimi Sano, Mototaka Imamura, Tomoyuki Akiyama, Tetsushi Yoshikawa, Tetsuya Ito, Hiroki Kurahashi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Background: Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from a dysfunctional tissue non-specific alkaline phosphatase enzyme (TNSALP). Although genotype-phenotype correlations have been described in HPP patients, only spa
Externí odkaz:
https://doaj.org/article/1c0cebc3356c490289e502c34a5fb1b4
Autor:
Hirokazu Takahashi, Kyoko Yoneda, Ayako Tomimoto, Hiroki Endo, Toshio Fujisawa, Hiroshi Iida, Hironori Mawatari, Yuichi Nozaki, Tamon Ikeda, Tomoyuki Akiyama, Masato Yoneda, Masahiko Inamori, Yasunobu Abe, Satoru Saito, Atsushi Nakajima, Hitoshi Nakagama
Publikováno v:
Journal of Pharmacological Sciences, Vol 105, Iss 2, Pp 129-132 (2007)
Life style-related diseases are associated with an increased risk of colorectal cancer (CRC). Recently, an association has been demonstrated between obesity and CRC. CRC has been associated with markers of insulin or glucose control, and insulin resi
Externí odkaz:
https://doaj.org/article/1cc27a91b86e4ad3985db86faa6eac04