Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Ryosuke Bo"'
Autor:
Shoko Sonehara, Ryosuke Bo, Yoshinori Nambu, Kiiko Iketani, Tomoko Lee, Hideki Shimomura, Masaaki Ueda, Yasuhiro Takeshima, Kazumoto Iijima, Kandai Nozu, Hisahide Nishio, Hiroyuki Awano
Publikováno v:
Genes, Vol 14, Iss 12, p 2211 (2023)
Newborn screening (NBS) for spinal muscular atrophy (SMA) is necessary, as favorable outcomes can be achieved by treatment with disease-modifying drugs in early infancy. Although SMA-NBS has been initiated in Japan, its clinical results have not been
Externí odkaz:
https://doaj.org/article/268f8b36e9d846d29073bd43ff55d54e
Autor:
Yoshihiro Bouike, Makoto Sakima, Yuya Taninishi, Takanori Matsutani, Yoriko Noguchi, Ryosuke Bo, Hiroyuki Awano, Hisahide Nishio
Publikováno v:
Genes, Vol 14, Iss 12, p 2159 (2023)
The survival motor neuron 2 (SMN2) gene is a recognized modifier gene of spinal muscular atrophy (SMA). However, our knowledge about the role of SMN2—other than its modification of SMA phenotypes—is very limited. Discussions regarding the relatio
Externí odkaz:
https://doaj.org/article/91fb8a3e38e243d2a4f6976a66cd2f13
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:
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, Vol 14, Iss 3, p 759 (2023)
The authors wish to make the following correction to this paper [...]
Externí odkaz:
https://doaj.org/article/b65709424f2c4d41a5d85c173e88ec26
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, Vol 13, Iss 11, p 2110 (2022)
Spinal muscular atrophy (SMA) is a common devastating neuromuscular disorder, usually involving homozygous deletion of the SMN1 gene. Newly developed drugs can improve the motor functions of infants with SMA when treated in the early stage. To ensure
Externí odkaz:
https://doaj.org/article/ff7f1901399d431db8f7fd8aa66023b7
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