Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Hideo Sugie"'
Autor:
Yasuhiko Ago, Hideo Sugie, Tokiko Fukuda, Hiroki Otsuka, Hideo Sasai, Mina Nakama, Elsayed Abdelkreem, Toshiyuki Fukao
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 15-18 (2019)
Abstract We describe the case of a 4‐year‐old boy who suffered from frequent ketotic hypoglycemia (KH) but did not have hepatomegaly or elevated liver enzyme levels. However, the patient was found to have a rare variant in the PHKA2 gene. To dete
Externí odkaz:
https://doaj.org/article/12f8ec4428a547d897c7fdbd0e46676c
Autor:
Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 17, Iss , Pp 31-37 (2018)
Background: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations inc
Externí odkaz:
https://doaj.org/article/406a2551d3c14318bb5f5c68b8dce284
Autor:
Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100601- (2020)
Glycogen storage disease type IV (GSD IV) is a rare inborn metabolic disorder characterized by the accumulation of amylopectin-like glycogen in the liver or other organs. The hepatic subtype may appear normal at birth but rapidly develops to liver ci
Externí odkaz:
https://doaj.org/article/9e938f07756140a19a8f3e32e1aead92
Autor:
Madoka Mori-Yoshimura, Kazutaka Aizawa, Yasushi Oya, Yoshihiko Saito, Tokiko Fukuda, Hideo Sugie, Ichizo Nishino, Yuji Takahashi
Publikováno v:
Neuromuscular Disorders. 32:769-773
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60a82a5f877f70c6320eee39b4301609
https://doi.org/10.1016/j.nmd.2022.05.010
https://doi.org/10.1016/j.nmd.2022.05.010
Autor:
Yoshihiko Saito, Kimitoshi Nakamura, Tokiko Fukuda, Hideo Sugie, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:1142-1145
Background and objectivesPompe disease is reportedly less prevalent in Japan than in neighbouring countries, raising a possibility that some patients may be overlooked. Therefore, all muscle biopsy samples received at our institute were screened for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fec8e57b77f4fb048bd2c3c2c5738a7
https://doi.org/10.1136/jnnp-2022-329085
https://doi.org/10.1136/jnnp-2022-329085
Autor:
Ichizo Nishino, Tokiko Fukuda, Yutaka Ohsawa, Shin-ichiro Nishimatsu, Yoshihiko Saito, Hirotake Nishimura, Asami Munekane, Yoshihide Sunada, Hideo Sugie
Publikováno v:
Internal Medicine. 61:1241-1245
Muscle phosphorylase b kinase (PHK) deficiency is a rare mild metabolic disorder caused by mutations of the PHKA1 gene encoding the αM subunit of PHK. A 16-year-old boy experienced myalgia during the maximal multistage 20-m shuttle run test targetin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efac16aa2f4a6983870900c4f4c89a3a
https://doi.org/10.2169/internalmedicine.8137-21
https://doi.org/10.2169/internalmedicine.8137-21
Autor:
Kousuke Baba, Tokiko Fukuda, Mitsuru Furuta, Satoru Tada, Atsuko Imai, Yoshihiro Asano, Hideo Sugie, Masanori P. Takahashi, Hideki Mochizuki
Publikováno v:
Internal medicine (Tokyo, Japan). 61(23)
Phosphoglycerate kinase (PGK) deficiency is an X-linked disorder characterized by a combination of hemolytic anemia, myopathy, and brain involvement. We herein report a Japanese man who had several episodes of rhabdomyolysis but was training strenuou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17106be0117e2ad521a188a8434c01f1
https://pubmed.ncbi.nlm.nih.gov/35527021
https://pubmed.ncbi.nlm.nih.gov/35527021
Autor:
Ichizo Nishino, Yasuhiro Fuseya, Hirofumi Yamashita, Kei Sato, Jun-Ichi Miyahara, Seiji Kaji, Tokiko Fukuda, Takeyo Sakurai, Yoshihiko Saito, Makio Takahashi, Hideo Sugie
Publikováno v:
Internal Medicine. 59:2729-2732
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delay
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::043776fffb5ea3c1f9b9d11554675b6a
https://doi.org/10.2169/internalmedicine.4604-20
https://doi.org/10.2169/internalmedicine.4604-20
Autor:
Harumi Yoshinaga, Shin-ichiro Hamano, Hirofumi Komaki, Masakazu Mimaki, Noriko Kojimahara, Jun Natsume, Masaya Kubota, Kuniaki Iyoda, Hideo Sugie, Masaharu Tanaka, Tokiko Fukuda, Shinichi Niijima, Yoshihiro Maegaki, Takuya Tanabe, Hideaki Kanemura, Kenji Sugai
Publikováno v:
Brain and Development. 42:28-34
Objective To investigate the effect of guidelines for management of febrile seizures on the clinical practice, we conducted a nationwide survey in Japan. Methods The Japanese guidelines for management of febrile seizures 2015 (GL2015) was released in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9fcfe7a8a5fc06807f0e7d0cc5446ea
https://doi.org/10.1016/j.braindev.2019.08.009
https://doi.org/10.1016/j.braindev.2019.08.009
Autor:
Toshiyuki Fukao, Tokiko Fukuda, Mina Nakama, Elsayed Abdelkreem, Hideo Sasai, Hideo Sugie, Yasuhiko Ago, Hiroki Otsuka
Publikováno v:
JIMD Reports
JIMD Reports, Vol 48, Iss 1, Pp 15-18 (2019)
JIMD Reports, Vol 48, Iss 1, Pp 15-18 (2019)
We describe the case of a 4‐year‐old boy who suffered from frequent ketotic hypoglycemia (KH) but did not have hepatomegaly or elevated liver enzyme levels. However, the patient was found to have a rare variant in the PHKA2 gene. To detect the un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b87a73487d977863ab5e857f9bb1919a
http://europepmc.org/articles/PMC6606978
http://europepmc.org/articles/PMC6606978