Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Mahoko Furujo"'
Autor:
Asami Ukida, Yasuo Nakahara, Mahoko Furujo, Chika Takada, Kosuke Hitomi, Wataru Mukai, Yusuke Takahashi, Takafumi Goto, Koji Aoyama
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 101, Iss , Pp 102766- (2024)
Introduction: The most prevalent cause of virilization in newborns is congenital adrenal hyperplasia. A very infrequent cause, on the other hand, is a virilizing maternal adrenal tumor. We present two 46XX siblings with virilization of the external g
Externí odkaz:
https://doaj.org/article/bf00786dd7624af382792f5cdf30d068
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 69-75 (2017)
Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by N-acetylgalactosamine-4-sulpha
Externí odkaz:
https://doaj.org/article/f8e6e45c385946bfaa4e34ef15cca514
Autor:
Yoshiaki Takahashi, Yasuhiro Manabe, Yumiko Nakano, Taijun Yunoki, Syoichiro Kono, Hisashi Narai, Mahoko Furujo, Koji Abe
Publikováno v:
Case Reports in Neurology, Vol 9, Iss 1, Pp 17-21 (2017)
We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HT
Externí odkaz:
https://doaj.org/article/f0c6d8276b084be4978dda12b9472a5e
Autor:
Mika Suga, Takayuki Kondo, Keiko Imamura, Ran Shibukawa, Yasue Okanishi, Yukako Sagara, Kayoko Tsukita, Takako Enami, Mahoko Furujo, Kaoru Saijo, Yukio Nakamura, Mitsujiro Osawa, Megumu K. Saito, Shinya Yamanaka, Haruhisa Inoue
Publikováno v:
Stem Cell Research, Vol 36, Iss , Pp - (2019)
Mucopolysaccharidosis type I (MPS I) is a rare inherited metabolic disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal protein encoded by IDUA gene. MPS I is a progressive multisystemic disorder with a wide range of symptoms, includ
Externí odkaz:
https://doaj.org/article/b0a8c2006a5343dbb64ae839541f07d0
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 2, Iss C, Pp 37-39 (2014)
We assessed the clinical characteristics and efficacy of neurotransmitters and levetiracetam in a patient with hyperphenylalaninemia due to dihydropteridine reductase (DHPR) deficiency who developed epileptic seizures. A boy with DHPR deficiency, who
Externí odkaz:
https://doaj.org/article/d6449756a5fa4cfe8fd598ad0f6befb7
Autor:
Mahoko Furujo, Motoharu Ochi, Yousuke Higuchi, Takahiro Namba, Yuki Ebuchi, Hiroki Tsuchiya, Shoko Fujinaga, Naoko Urata, Toshihide Kubo, Michiko Kishi, Narumi Hara
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:1417-1423
Background The relationship between growth hormone (GH)-replacement therapy and the thyroid axis in GH-deficient (GHD) children remains controversial. Furthermore, there have been few reports regarding non-GHD children. We aimed to determine the effe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2afa86e51c355afd3f72e5db64b67bc
https://doi.org/10.1515/jpem-2020-0151
https://doi.org/10.1515/jpem-2020-0151
Autor:
Shintaro Fujiwara, Yousuke Higuchi, Yuki Ebuchi, Yu Fukushima, Takahiro Ohkura, Mahoko Furujo
Publikováno v:
Journal of Paediatrics and Child Health. 59:590-591
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fdff12f666cac47acd50676fa80d485
https://doi.org/10.1111/jpc.15994
https://doi.org/10.1111/jpc.15994
Publikováno v:
Clinical Rheumatology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc37724b11f0fdd65fe0248f533c6f82
Autor:
Toru Fukuhara, Mahoko Furujo, Hiroyuki Tanaka, Mizuho Aoi, Yusuke S. Hori, Takushi Inoue, Michiari Umakoshi, Kazunori Oda, Masato Ishi, Takahiro Ohkura, Yuki Ebisudani
Publikováno v:
Pediatric Neurosurgery. 53:167-170
Turner syndrome is a chromosomal disorder usually caused by complete deletion of an X chromosome, with deletion in the short arm of the X chromosome being a rare cause of the condition. Patients with Turner syndrome commonly develop hypertension, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58a46741ad200b11b69e18388af1983c
https://doi.org/10.1159/000485252
https://doi.org/10.1159/000485252
Autor:
Syoichiro Kono, Hisashi Narai, Yumiko Nakano, Mahoko Furujo, Yoshiaki Takahashi, Koji Abe, Taijun Yunoki, Yasuhiro Manabe
Publikováno v:
Case Reports in Neurology, Vol 9, Iss 1, Pp 17-21 (2017)
Case Reports in Neurology
Case Reports in Neurology
We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::140c27cd992374c35581b1a7a83141c1
http://www.karger.com/Article/FullText/456610
http://www.karger.com/Article/FullText/456610