Zobrazeno 1 - 10
of 348
pro vyhledávání: '"Nobuyuki, Shimozawa"'
Autor:
Kenji Hara, Atsushi Ujiie, Shiori Suzuki, Takenori Okumura, Mio Kubo, Hiroyuki Shinozaki, Mototaka Yamauchi, Takafumi Tsuchiya, Kohzo Takebayashi, Nobuyuki Shimozawa, Masafumi Koga, Koshi Hashimoto
Publikováno v:
Endocrine Journal, Vol 71, Iss 1, Pp 39-44 (2023)
We encountered five cases that exhibited false-high Hemoglobin A1c (HbA1c) levels when samples were examined using the enzyme-based NORUDIA N HbA1c kit. HbA1c levels were higher than those obtained using other methods, such as HPLC, immune-based meth
Externí odkaz:
https://doaj.org/article/b3b4a1d0be744d8d9cfaea192bfa0853
Autor:
Takahiro Ikeda, Yuta Kawahara, Akihiko Miyauchi, Hitomi Niijima, Rieko Furukawa, Nobuyuki Shimozawa, Akira Morimoto, Hitoshi Osaka, Takanori Yamagata
Publikováno v:
JIMD Reports, Vol 63, Iss 1, Pp 19-24 (2022)
Abstract Adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by white matter degeneration caused by adenosine triphosphate‐binding cassette subfamily D member 1 (ABCD1) gene mutations, which lead to an accumulation of very‐long‐c
Externí odkaz:
https://doaj.org/article/780fcfc1716c48bbad54e7aacb6a724f
Autor:
Kotaro Hama, Yuko Fujiwara, Shigeo Takashima, Yasuhiro Hayashi, Atsushi Yamashita, Nobuyuki Shimozawa, Kazuaki Yokoyama
Publikováno v:
Journal of Lipid Research, Vol 61, Iss 4, Pp 523-536 (2020)
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by deleterious mutations in the ABCD1 gene. The ABCD1 protein transports very long-chain FAs (VLCFAs) from the cytosol into the peroxisome where the VLCFAs are degraded through β-
Externí odkaz:
https://doaj.org/article/7195fa710b5142e4a6d2da324487dc47
Autor:
Koji Kato, Ryo Maemura, Manabu Wakamatsu, Ayako Yamamori, Motoharu Hamada, Shinsuke Kataoka, Atsushi Narita, Shunsuke Miwata, Yuko Sekiya, Nozomu Kawashima, Kyogo Suzuki, Kotaro Narita, Sayoko Doisaki, Hideki Muramatsu, Hirotoshi Sakaguchi, Kimikazu Matsumoto, Yuka Koike, Osamu Onodera, Makiko Kaga, Nobuyuki Shimozawa, Nao Yoshida
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 18, Iss , Pp 1-6 (2019)
Objective: The prognosis of adrenoleukodystrophy (ALD)with neurological involvement is generally dismal; however, allogeneic stem cell transplantation (SCT) is recognized as effective to stabilize or improve the clinical symptoms of ALD. Herein, we r
Externí odkaz:
https://doaj.org/article/2bec548df4fc4e8fbd0c4373239d7c0b
Autor:
Hiroki, Kawai, Shigeo, Takashima, Akiko, Ohba, Kayoko, Toyoshi, Kazuo, Kubota, Hidenori, Ohnishi, Nobuyuki, Shimozawa
Publikováno v:
Brain and Development. 45:58-69
Bile acid intermediates, 3α,7α,12α-trihydroxycholestanoic acid (THCA) and 3α,7α-dihydroxycholestanoic acid (DHCA), are metabolized in peroxisomes. Some peroxisomal disorders (PDs), such as Zellweger spectrum disorder (ZSD), show an accumulation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::990fcb4efa1d315e8147c7db79c01fdd
https://doi.org/10.1016/j.braindev.2022.10.001
https://doi.org/10.1016/j.braindev.2022.10.001
Autor:
Kenji Hara, Atsushi Ujiie, Shiori Suzuki, Takenori Okumura, Mio Kubo, Hiroyuki Shinozaki, Mototaka Yamauchi, Takafumi Tsuchiya, Kohzo Takebayashi, Nobuyuki Shimozawa, Masafumi Koga, Koshi Hashimoto
Publikováno v:
Endocrine Journal; 2024, Vol. 71 Issue 1, p39-44, 6p
Autor:
Nobuyuki Shimozawa, Shigeo Takashima, Hiroki Kawai, Kazuo Kubota, Hideo Sasai, Kenji Orii, Megumi Ogawa, Hidenori Ohnishi
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 58 (2021)
We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyse
Externí odkaz:
https://doaj.org/article/74c6dd4f35fc451c993b5417ea8715bc
Publikováno v:
Journal of General and Family Medicine, Vol 21, Iss 4, Pp 146-147 (2020)
Abstract A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract. Although she had noticed
Externí odkaz:
https://doaj.org/article/c93286f42afc4d82a51a75247604664f
Autor:
Yumiko Nakano, Yuki Taira, Ryo Sasaki, Koh Tadokoro, Taijun Yunoki, Emi Nomura, Yusuke Fukui, Mami Takemoto, Ryuta Morihara, Nobuyuki Shimozawa, Toru Yamashita
Publikováno v:
Neurology and Clinical Neuroscience. 11:58-60
X-linked adrenoleukodystrophy (ALD) is a major peroxisomal disorder, in which abnormal accumulation of very long-chain fatty acids (VLCFA) caused by ABCD1 gene mutation results in damage to the peripheral and central nervous system and adrenal gland.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14eecf32dac2145eab165b7b086d2f73
https://doi.org/10.1111/ncn3.12667
https://doi.org/10.1111/ncn3.12667
Autor:
Takahiro Ikeda, Hitomi Niijima, Hitoshi Osaka, Akihiko Miyauchi, Rieko Furukawa, Nobuyuki Shimozawa, Yuta Kawahara, Akira Morimoto, Takanori Yamagata
Publikováno v:
JIMD Reports
JIMD Reports, Vol 63, Iss 1, Pp 19-24 (2022)
JIMD Reports, Vol 63, Iss 1, Pp 19-24 (2022)
Adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by white matter degeneration caused by adenosine triphosphate‐binding cassette subfamily D member 1 (ABCD1) gene mutations, which lead to an accumulation of very‐long‐chain fatt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c714c382592bdaac7d479a64966688
http://europepmc.org/articles/PMC8743339
http://europepmc.org/articles/PMC8743339