Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Akimune, Kaga"'
Autor:
Yoichi Wada, Atsuo Kikuchi, Akimune Kaga, Naoki Shimizu, Junya Ito, Ryo Onuma, Fumiyoshi Fujishima, Eriko Totsune, Ryo Sato, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Kota Sato, Toru Nakazawa, Keiko Nakayama, Yoko Aoki, Setsuya Aiba, Kiyotaka Nakagawa, Shigeo Kure
Publikováno v:
PLoS Genetics, Vol 16, Iss 2, p e1008628 (2020)
Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthes
Externí odkaz:
https://doaj.org/article/22d7d4f36d164f7dbc951b96470b2d6a
Autor:
Kota Sato, Setsuya Aiba, Matsuyuki Shirota, Naoki Shimizu, Ryo Onuma, Ryo Sato, Akimune Kaga, Tetsuya Niihori, Eriko Totsune, Junya Ito, Ryo Funayama, Atsuo Kikuchi, Yoko Aoki, Toru Nakazawa, Yoichi Wada, Fumiyoshi Fujishima, Keiko Nakayama, Shigeo Kure, Kiyotaka Nakagawa
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 16, Iss 2, p e1008628 (2020)
PLoS Genetics, Vol 16, Iss 2, p e1008628 (2020)
Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6020229c96c06f48f1f66a96873f770c
https://doi.org/10.1371/journal.pgen.1008628
https://doi.org/10.1371/journal.pgen.1008628
Autor:
Miki Kamimura, Shigeo Kure, Kazuhiko Hoshi, Junko Kanno, Masato Kimura, Jun Murotsuki, Akiko Saito-Hakoda, Ikuma Fujiwara, Akimune Kaga
Publikováno v:
Congenital Anomalies. 55:116-120
Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dime
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89eb1824a580aa5de306b9137bede517
https://doi.org/10.1111/cga.12097
https://doi.org/10.1111/cga.12097
Autor:
Takako Kudo1,2 zipperxxxty@gmail.com, Akimune Kaga1,3 kagakimune@yahoo.co.jp, Kozo Akagi2 akagik@snh.go.jp, Hideki Iwahashi2 soredemokitamichi1119@yahoo.co.jp, Hiromitsu Makino2 makino.h@jcom.home.ne.jp, Yoko Watanabe4 sgnmy_k@yahoo.co.jp, Takae Kawamura4 t_kawamura@snh.go.jp, Taiju Sato5 we_love_bands@yahoo.co.jp, Tsuyoshi Shinozaki5 shinozaki@snh.go.jp, Shinya Miwa6 psy7241@snh.go.jp, Nobuo Okazaki6 nokazaki@snh.go.jp, Shigeo Kure3 kure@med.tohoku.ac.jp, Shingi Nakae1 shinnakae@snh.go.jp
Publikováno v:
BMC Research Notes. 2014, Vol. 7 Issue 1, p1-10. 10p. 2 Black and White Photographs.
Autor:
Takuma Matsuki1,2, Akimune Kaga1,2 kagakimune@yahoo.co.jp, Susumu Kanda1, Yutaka Suzuki1, Muneyuki Tanabu1, Naoya Sawa3
Publikováno v:
BMC Research Notes. 2012, Vol. 5 Issue 1, p481-484. 4p. 3 Black and White Photographs.
Autor:
Shigeo Kure, Miki Kamimura, Akimune Kaga, Akiko Saito-Hakoda, Junko Kanno, Ikuma Fujiwara, Mitsugu Uematsu
Publikováno v:
Clinical Pediatric Endocrinology
Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::684d4dc306df2f8cf76233a0e66aec74
http://europepmc.org/articles/PMC3809734
http://europepmc.org/articles/PMC3809734
Autor:
Takaya Metoki, Setsuko Kitaoka, Satoru Kumaki, Hiroki Miyabayashi, Hiroshi Watanabe, Akimune Kaga
Publikováno v:
The Tohoku journal of experimental medicine. 240(2)
Neonatal toxic shock syndrome-like exanthematous disease (NTED) is a newly recognized neonatal infectious disease, caused by the superantigen toxic shock syndrome toxin-1 (TSST-1). TSST-1 is mainly produced by methicillin-resistant Staphylococcus aur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a02b7af666fa3680073d63d661f6c42
https://pubmed.ncbi.nlm.nih.gov/27760897
https://pubmed.ncbi.nlm.nih.gov/27760897
Autor:
Yu Katata, Satoru Kumaki, Setsuko Kitaoka, Kanako Otani, Hiroshi Watanabe, Akimune Kaga, Akira Suzuki
Publikováno v:
The Tohoku journal of experimental medicine. 239(2)
Coxsackievirus (Cox) B is the second common picornaviruses, after echovirus, detected from children younger than 2 months of age. Neonates who present with Cox B3 infection in the first week are known to have severe illness such as myocarditis or men
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4162d38b1fe4546fc4a470ac981cb557
https://pubmed.ncbi.nlm.nih.gov/27250900
https://pubmed.ncbi.nlm.nih.gov/27250900
Autor:
Yu Katata, Mitsugu Uematsu, Tomoyuki Ishida, Saeko Suzuki, Yoko Matsubara, Akimune Kaga, Setsuko Kitaoka, Natsuko Kusaka, Satoru Kumaki, Kazuhiro Haginoya
Publikováno v:
Pediatric Neurology. 51:279-281
Background Acute cerebellitis with unilateral onset is rare, and magnetic resonance imaging (MRI) is a useful method for demonstrating cerebellar involvement. Patient We report a 12-year-old girl with acute cerebellitis with a unique sequential chang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e907ffe02e31e5c4a69cd26c70f3b4bc
https://doi.org/10.1016/j.pediatrneurol.2014.05.002
https://doi.org/10.1016/j.pediatrneurol.2014.05.002
Publikováno v:
Pediatrics International. 55:e67-e69
Skin hamartoma is an extremely rare disease on the hand in newborn infants. Reported herein is the case of a newborn infant who presented with a skin hamartoma on the hand. The patient was a girl born at 37 weeks of gestational age. The mass was seen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7aca60df29105ae4f2da0184e2509ce2
https://doi.org/10.1111/ped.12021
https://doi.org/10.1111/ped.12021