Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Kaori, Fukui"'
Autor:
Jun Kido, Shirou Matsumoto, Tetsuya Ito, Shinichi Hirose, Kaori Fukui, Kanako Kojima-Ishii, Yuichi Mushimoto, Shinobu Yoshida, Mika Ishige, Norio Sakai, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100724- (2021)
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 to understand the present stat
Externí odkaz:
https://doaj.org/article/1d109c7d81b5461b97f720590b122583
Autor:
Daisuke Masui, Suguru Fukahori, Tatsuki Mizuochi, Yoriko Watanabe, Kaori Fukui, Shinji Ishii, Nobuyuki Saikusa, Naoki Hashizume, Naruki Higashidate, Saki Sakamoto, Aiko Takato, Koh-ichiro Yoshiura, Yoshiaki Tanaka, Minoru Yagi
Publikováno v:
Surgical Case Reports, Vol 5, Iss 1, Pp 1-6 (2019)
Abstract Background Biliary atresia (BA) cases are generally not associated with congenital abnormalities. However, accurate diagnosis of BA is often challenging because the histopathological features of BA overlap with those of other pediatric liver
Externí odkaz:
https://doaj.org/article/1c405af2aab24fddbe000744ec4adc60
Autor:
Kaori Fukui, Tomoyuki Takahashi, Hitomi Matsunari, Ayuko Uchikura, Masahito Watanabe, Hiroshi Nagashima, Naotada Ishihara, Tatsuyuki Kakuma, Yoriko Watanabe, Yushiro Yamashita, Makoto Yoshino
Publikováno v:
Journal of Inherited Metabolic Disease. 45:1059-1069
Patients with urea cycle disorders intermittently develop episodes of decompensation with hyperammonemia. Although such an episode is often associated with starvation and catabolism, its molecular basis is not fully understood. First, we attempted to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc3af457328714a0f62432ab8ded22a
https://doi.org/10.1002/jimd.12540
https://doi.org/10.1002/jimd.12540
Autor:
Eiko Takeshita, Sachio Takashima, Masayuki Nakashima, Hiromi Ishibashi, Yoriko Watanabe, Toshio Hanai, Mayumi Matsufuji, Kaori Fukui
Publikováno v:
Brain and Development. 42:231-235
An adult female patient was diagnosed with arginase 1 deficiency (ARG1-D) at 4 years of age, and had been managed with protein restriction combined with sodium benzoate therapy. Though the treatment was successful in ameliorating hyperammonemia, hype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68c01752e0c71bd45e5efdf969808be4
https://doi.org/10.1016/j.braindev.2019.09.002
https://doi.org/10.1016/j.braindev.2019.09.002
Autor:
Kaori Fukui, Kanako Kojima-Ishii, Kimitoshi Nakamura, Shinichi Hirose, Shinobu Yoshida, Norio Sakai, Shirou Matsumoto, Mika Ishige, Tetsuya Ito, Yuichi Mushimoto, Jun Kido
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100724-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 to understand the present stat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a42433a11288de41b94f91a0e2acd8cb
http://www.sciencedirect.com/science/article/pii/S2214426921000185
http://www.sciencedirect.com/science/article/pii/S2214426921000185
Autor:
Yasuhiko, Ago, Hiroki, Otsuka, Hideo, Sasai, Elsayed, Abdelkreem, Mina, Nakama, Yuka, Aoyama, Hideki, Matsumoto, Ryoji, Fujiki, Osamu, Ohara, Kazumasa, Akiyama, Kaori, Fukui, Yoriko, Watanabe, Yoko, Nakajima, Hidenori, Ohnishi, Tetsuya, Ito, Toshiyuki, Fukao
Publikováno v:
Experimental and Therapeutic Medicine
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the HMGCS2 gene. The present study describes the identification of four cases of HMGCS2 deficiency in Japan. Hepatomegaly and sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4f158afd948be2be6657faa82b977a97
https://pubmed.ncbi.nlm.nih.gov/32952630
https://pubmed.ncbi.nlm.nih.gov/32952630
Autor:
Kaori Fukui, Katsunori Fujii, Yoshimi Watanabe, Hiromi Aoyama, Kazuo Kodama, Taku Omata, Naoki Shimojo
Publikováno v:
Journal of the Neurological Sciences. 396:30-32
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5988a13b96562f41be737e6c964874d9
https://doi.org/10.1016/j.jns.2018.10.027
https://doi.org/10.1016/j.jns.2018.10.027
Autor:
Minoru Yagi, Yoriko Watanabe, Shinji Ishii, Koh-ichiro Yoshiura, Yoshiaki Tanaka, Naruki Higashidate, Suguru Fukahori, Kaori Fukui, Nobuyuki Saikusa, Aiko Takato, Saki Sakamoto, Tatsuki Mizuochi, Naoki Hashizume, Daisuke Masui
Publikováno v:
Surgical Case Reports
Surgical Case Reports, Vol 5, Iss 1, Pp 1-6 (2019)
Surgical Case Reports, Vol 5, Iss 1, Pp 1-6 (2019)
Background Biliary atresia (BA) cases are generally not associated with congenital abnormalities. However, accurate diagnosis of BA is often challenging because the histopathological features of BA overlap with those of other pediatric liver diseases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fafdec6fb70f76fd78c1a7f4ddaf6878
http://europepmc.org/articles/PMC6694366
http://europepmc.org/articles/PMC6694366
Autor:
Tetsuya Ito, Hideo Sasai, Ryoji Fujiki, Osamu Ohara, Kaori Fukui, Toshiyuki Fukao, Hideki Matsumoto, Yoriko Watanabe, Elsayed Abdelkreem, Hidenori Ohnishi, Yuka Aoyama, Hiroki Otsuka, Yasuhiko Ago, Kazumasa Akiyama, Mina Nakama, Yoko Nakajima
Publikováno v:
Experimental and Therapeutic Medicine. 20:1-1
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the HMGCS2 gene. The present study describes the identification of four cases of HMGCS2 deficiency in Japan. Hepatomegaly and sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::775b444b21eae1cdd7d668ac01b80800
https://doi.org/10.3892/etm.2020.9166
https://doi.org/10.3892/etm.2020.9166
Autor:
Toshiyuki Tahara, Mitsunori Yamakawa, Takuji Torimura, Kaori Fukui, Yoriko Watanabe, Chikahiko Numakura, Ken Tomotsune, Yuji Hiromatsu, Kiyoshi Hayasaka
Publikováno v:
Diabetes Research and Clinical Practice. 164:108159
Aims Citrin is an aspartate/glutamate carrier that composes the malate-aspartate reduced nicotinamide adenine dinucleotide (NADH) shuttle in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), failure to thrive and dyslipid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aabfc5246e82710f626f71eb347140c
https://doi.org/10.1016/j.diabres.2020.108159
https://doi.org/10.1016/j.diabres.2020.108159