Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Yosuke Shigematsu"'
Autor:
Shuhei Kidoguchi, Kunio Torii, Toshiharu Okada, Tomoko Yamano, Nanami Iwamura, Kyoko Miyagi, Tadashi Toyama, Masayuki Iwano, Ryoichi Miyazaki, Yosuke Shigematsu, Hideki Kimura
Publikováno v:
Diagnostics, Vol 14, Iss 20, p 2295 (2024)
Background/Objectives: Lipid metabolism and adiponectin modulate erythropoiesis in vitro and in general population studies and may also affect responsiveness to erythropoietin in patients undergoing haemodialysis (HD). However, little is known about
Externí odkaz:
https://doaj.org/article/2d6c36929f8b4025a6f3c418841eaf23
Autor:
Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 15 (2024)
Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a long-chain fatty acid oxidation disorder that manifests as either a severe phenotype associated with cardiomyopathy, a hypoglycemic phenotype, or a myopathic phenotype. As the hypoglycemi
Externí odkaz:
https://doaj.org/article/fa06d5f7a6e240b187c79fd0363573e9
Autor:
Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 62 (2023)
Carnitine palmitoyltransferase (CPT) II deficiency is a long-chain fatty acid oxidation disorder. It manifests as (1) a lethal neonatal form, (2) a hypoglycemic form, or (3) a myopathic form. The second form can cause sudden infant death and is more
Externí odkaz:
https://doaj.org/article/e55e3a9b95ee4057b002d6fe371edfd1
Autor:
Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena, Ishwar C. Verma
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract Background Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children. These disorders are not well reported in the Indian population,
Externí odkaz:
https://doaj.org/article/65d79e3249d4413dae7e12748ea823af
Autor:
Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C. Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 5-10 (2018)
Background: Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly p
Externí odkaz:
https://doaj.org/article/19614d8c2a7a45f8ad86d166a01ee63a
Autor:
Reiko Kagawa, Go Tajima, Takako Maeda, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Yutaka Nishimura, Miori Yuasa, Yosuke Shigematsu, Hiromi Tanaka, Saki Fujihara, Chiyoko Yoshii, Satoshi Okada
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 39 (2021)
Neonatal screening (NS) for methylmalonic acidemia uses propionylcarnitine (C3) as a primary index, which is insufficiently sensitive at detecting methylmalonic acidemia caused by defects in the adenosylcobalamin synthesis pathway. Moreover, homocyst
Externí odkaz:
https://doaj.org/article/cfa5b68bb5644eb3979913729ab8c292
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 44 (2021)
To minimize false-positive cases in newborn screening by tandem mass spectrometry in Japan, practical second-tier liquid chromatography-tandem mass spectrometry analyses have been developed using a multimode ODS column with a single set of mobile pha
Externí odkaz:
https://doaj.org/article/805dc05d69f7408e9ded6903fa7b9900
Autor:
Hitoshi Awaguni, Jun Shinozuka, Shin-ichiro Tanaka, Sayaka Kadowaki, Shigeru Makino, Rikken Maruyama, Yosuke Shigematsu, Kenji Hamaoka, Shinsaku Imashuku
Publikováno v:
Pediatric Reports, Vol 10, Iss 1 (2018)
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) develops in association with systemic as well as central nervous system (CNS) viral or bacterial infections. AESD is most often noted with influenza or human herpesvirus 6
Externí odkaz:
https://doaj.org/article/81955f8e6e4e4449a4e1262894b4b2d1
Autor:
Yoshimitsu Osawa, Hironori Kobayashi, Go Tajima, Keiichi Hara, Kenji Yamada, Seiji Fukuda, Yuki Hasegawa, Junko Aisaki, Miori Yuasa, Ikue Hata, Satoshi Okada, Yosuke Shigematsu, Hideo Sasai, Toshiyuki Fukao, Takumi Takizawa, Seiji Yamaguchi, Takeshi Taketani
Publikováno v:
Molecular Genetics and Metabolism. 136:74-79
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency has been a target of expanded newborn screening (ENBS) using tandem mass spectrometry in Japan. Since the implementation of ENBS, a number of novel ACADVL variants responsible for VLCAD defici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f678b6bb26d0f5d14839ce32edb4bdf
https://doi.org/10.1016/j.ymgme.2022.03.009
https://doi.org/10.1016/j.ymgme.2022.03.009
Autor:
Makoto Honda, Yosuke Shigematsu, Mihoko Shimada, Yoshiko Honda, Katsushi Tokunaga, Taku Miyagawa
Publikováno v:
Sleep. 45(10)
Study Objectives Narcolepsy type 1 (NT1) is associated with metabolic abnormalities but their etiology remains largely unknown. The gene for carnitine palmitoyltransferase 1B (CPT1B) and abnormally low serum acylcarnitine levels have been linked to N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df3c7c71aa71b7daff84ebe8bd24ab6b
https://pubmed.ncbi.nlm.nih.gov/35810398
https://pubmed.ncbi.nlm.nih.gov/35810398