Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Ryosuke Bo"'
Autor:
Kenji Yamada, Yoshimitsu Osawa, Hironori Kobayashi, Ryosuke Bo, Yuichi Mushimoto, Yuki Hasegawa, Seiji Yamaguchi, Takeshi Taketani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100940- (2022)
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disease caused by a defect in electron transfer flavoprotein alpha (ETFA), ETF beta (ETFB), or ETF dehydrogenase (ETFDH), and riboflavin metabolism disorders have recently be
Externí odkaz:
https://doaj.org/article/2d52c3790d7b4c34b33e09e155d77d77
Autor:
Ryosuke Bo, Hiroyuki Awano, Kenji Yamada, Mayu Ooi, Yuichi Okata, Yuko Bitoh, Satoshi Mizobuchi, Kazumoto Iijima
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100760- (2021)
Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD, OMIM 201475) is a congenital fatty acid oxidation disorder. Individuals with VLCADD should avoid catabolic states, including strenuous exercise and long-term fasting; however, such con
Externí odkaz:
https://doaj.org/article/32f499cf545f43919061349205253c6d
Autor:
Ryosuke Bo, Ikuma Musha, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hiroyuki Awano, Masato Arao, Toru Kikuchi, Takeshi Taketani, Akira Ohtake, Seiji Yamaguchi, Kazumoto Iijima
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100611- (2020)
In Japan, carnitine palmitoyltransferase II (CPTII) deficiency has been included as one of the primary target diseases in the expanded newborn mass screening program since 2018. However, many cases of the severe infantile hepatocardiomuscular form of
Externí odkaz:
https://doaj.org/article/648da91c2b0e415b87c3fbf0b6e34607
Autor:
Ryosuke Bo, Hiroyuki Awano, Kosuke Nishida, Kazumichi Fujioka, Atsushi Nishiyama, Osamu Miyake, Kazumoto Iijima
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100634- (2020)
Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, a condition in which the body is unable to break down long-chain fatty acids properly, is the most common fatty acid oxidation disorder in Japan. Tandem mass spectrometry has been used in new
Externí odkaz:
https://doaj.org/article/330c70023da74877844db3c59cc7feda
Autor:
Ryosuke Bo, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Takeshi Taketani, Seiji Fukuda, Seiji Yamaguchi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 6, Iss C, Pp 1-4 (2016)
Mitochondrial trifunctional protein (TFP) is a multienzyme complex that catalyzes the last three steps of the β-oxidation cycle of long-chain fatty acids. In the prenatal diagnosis of TFP deficiency, acylcarnitine (AC) analysis has been considered d
Externí odkaz:
https://doaj.org/article/fd9929c36e8f485da2ce9df363c604a0
Autor:
Kenji Yamada, Ryosuke Bo, Hironori Kobayashi, Yuki Hasegawa, Mako Ago, Seiji Fukuda, Seiji Yamaguchi, Takeshi Taketani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 59-61 (2017)
Carnitine palmitoyltransferase II (CPT-2) deficiency, an autosomal recessive disorder of fatty acid oxidation, can be detected by newborn screening using tandem mass spectrometry (TMS). Our case was a boy born at 38 weeks and 6 days of gestation via
Externí odkaz:
https://doaj.org/article/870d418671b84b1aaf252478f10d66c9
Autor:
Yoriko Noguchi, Ryosuke Bo, Hisahide Nishio, Hisayuki Matsumoto, Keiji Matsui, Yoshihiko Yano, Masami Sugawara, Go Ueda, Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Masakazu Shinohara, Yoshihiro Bouike, Atsuko Takeuchi, Kentaro Okamoto, Toshio Saito, Hideki Shimomura, Tomoko Lee, Yasuhiro Takeshima, Kazumoto Iijima, Kandai Nozu, Hiroyuki Awano
Publikováno v:
Genes. 14:759
The authors wish to make the following correction to this paper [...]
Autor:
Takeshi Taketani M.D., Ph.D., Chigusa Oyama, Aya Mihara, Yuka Tanabe, Mariko Abe, Tomohiro Hirade, Satoshi Yamamoto, Ryosuke Bo, Rie Kanai, Taku Tadenuma, Yuko Michibata, Soichiro Yamamoto, Miho Hattori, Yoshihiro Katsube, Hiroe Ohnishi, Mari Sasao, Yasuaki Oda, Koji Hattori, Shunsuke Yuba, Hajime Ohgushi, Seiji Yamaguchi
Publikováno v:
Cell Transplantation, Vol 24 (2015)
Patients with severe hypophosphatasia (HPP) develop osteogenic impairment with extremely low alkaline phosphatase (ALP) activity, resulting in a fatal course during infancy. Mesenchymal stem cells (MSCs) differentiate into various mesenchymal lineage
Externí odkaz:
https://doaj.org/article/ba2f5b1d1dc14e879864c13230233920
Publikováno v:
Pediatrics International; Jan2022, Vol. 64 Issue 1, p1-3, 3p
The prescription rates of glucagon for hypoglycemia by pediatricians and physicians are low in Japan
Autor:
Atsuko Matsuoka, Masashi Nagai, Takehito Takeuchi, Yushi Hirota, Yasushi Nakagawa, Wataru Ogawa, Hiroyuki Awano, Kazumoto Iijima, Ryosuke Bo, Tetsushi Hamaguchi, Masaaki Matsumoto
Publikováno v:
Endocrine. 64(2):233-238
Purpose:Hypoglycemia is a common and life-threatening complication in type 1 diabetes mellitus (T1DM) patients. Current guidelines recommend glucagon for treating hypoglycemia in out-of-hospital settings; however, glucagon is reportedly underused in