Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Nobuyuki Ishige"'
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Abstract Methylmalonic acidemia (MMA) should be diagnosed in early infancy and receive appropriate management promptly after the diagnosis to prevent severe complications leading to death. At present, a newborn screening (NBS) method using tandem mas
Externí odkaz:
https://doaj.org/article/6fa1f2bc6cb948febd07e71b033a6f95
Autor:
Kazuhiro Watanabe, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, Kaoru Konishi, Nobuyuki Ishige, Harumi Yajima, Akito Sutani, Hisae Nakatani, Maki Gau, Kei Takasawa, Toshihiro Tajima, Tomonobu Hasegawa, Tomohiro Morio, Kenichi Kashimada
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 107:3341-3352
Context There are limited reports on the detailed examination of steroid profiles for setting algorithms for 21-hydroxylase deficiency (21OHD) screening by liquid chromatography–tandem mass spectrometry (LC-MS/MS). Objective We aimed to define an a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2c40350f8a13a4ea774267097215279
https://doi.org/10.1210/clinem/dgac521
https://doi.org/10.1210/clinem/dgac521
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:
Tatsuo Fuchigami, Maki Furukawa, Koji Hashimoto, Toshiyuki Fukao, Nobuyuki Ishige, Mika Ishige, Ryoji Fujiki, Ichiro Morioka, Yasuji Inamo, Hideo Sasai, Erika Ogawa, Hironori Kobayashi
Publikováno v:
Journal of Infection and Chemotherapy. 25:913-916
Rotavirus infection is a major cause of gastroenteritis, which occurs mainly in children. Liver dysfunction due to rotavirus gastroenteritis has been reported; however, acute hepatitis due to this disease is very rare. We present a rare case in which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::735b7cbc2c9bfb0edec9d03d211d5024
https://doi.org/10.1016/j.jiac.2019.04.020
https://doi.org/10.1016/j.jiac.2019.04.020
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 7, Iss 44, p 44 (2021)
Volume 7
Issue 3
International Journal of Neonatal Screening, Vol 7, Iss 44, p 44 (2021)
Volume 7
Issue 3
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5b63d4f1355f4ef3eb554608c5d3e26
https://pubmed.ncbi.nlm.nih.gov/34287228
https://pubmed.ncbi.nlm.nih.gov/34287228
Autor:
Mika Ishige, Kimitaka Nakazaki, Shori Takahashi, Erika Ogawa, Nobuyuki Ishige, Tatsuo Fuchigami
Publikováno v:
The Tohoku Journal of Experimental Medicine. 244:279-282
Carnitine is a water-soluble amino acid derivative required for β-oxidation of long-chain fatty acids. In carnitine cycle abnormalities and low carnitine states, fatty acid β-oxidation is inhibited during fasting, resulting in hypoglycemia. Pivalic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27de5b4586e61709c02cf9e1f49404fc
https://doi.org/10.1620/tjem.244.279
https://doi.org/10.1620/tjem.244.279
Autor:
Toshiyuki Fukao, Ryoji Fujiki, Akira Ohtake, Yusuke Hamada, Satoshi Okada, Ikue Hata, Ryosuke Bo, Nobuo Sakura, Go Tajima, Hideo Sasai, Atsuko Noguchi, Shinsuke Maruyama, Sayaka Ajihara, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Yosuke Shigematsu, Mika Ishige, Masaki Takayanagi, Masao Kobayashi, Osamu Ohara, Reiko Kagawa, Seiji Yamaguchi, Tomotaka Kono, Nobuyuki Ishige, Ikuma Musha, Miyuki Tsumura, Etsuo Naito, Keiichi Hara, Tomonari Awaya, Tomoko Asada
Publikováno v:
Molecular genetics and metabolism. 122(3)
Background Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder (FAOD). However, newborn screening (NBS) for this potentially fatal disease has not been established partly b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c71ba7bef3413960d516bc737c1b82f
https://pubmed.ncbi.nlm.nih.gov/28801073
https://pubmed.ncbi.nlm.nih.gov/28801073
Autor:
Teruo Kitagawa, Nobuyuki Ishige, Takashi Kodama, Toshihiro Suzuki, Toya Ohashi, Hitoshi Sakuraba, Kanako Sugawara, Tadayasu Togawa, Takahiro Tsukimura, Ken Suzuki
Publikováno v:
Molecular Genetics and Metabolism. 100:257-261
Fabry disease is an X-linked genetic disorder caused by a deficiency of α-galactosidase A (GLA) activity. As enzyme replacement therapy (ERT) involving recombinant GLAs has been introduced for this disease, a useful biomarker for diagnosis and monit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56ad890e938f69488f33fce59a855ae3
https://doi.org/10.1016/j.ymgme.2010.03.020
https://doi.org/10.1016/j.ymgme.2010.03.020
Autor:
Toya Ohashi, Masahisa Kobayashi, Akemi Tanaka, Yoshikatsu Eto, Hideo Odaka, Nobuyuki Ishige, Teruo Kitagawa, Ken Suzuki, Misao Owada
Publikováno v:
Pediatric Nephrology. 23:1461-1471
The most appropriate time for screening for Fabry disease (FD) is school age. For this reason, we developed non-invasive methods for measuring urinary alpha-galactosidase A (alpha-gal A) protein, using enzyme-linked immunosorbent assay (ELISA), and f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b33b40f8f919816b76a36d02206c0362
https://doi.org/10.1007/s00467-008-0846-6
https://doi.org/10.1007/s00467-008-0846-6
Autor:
Ryosuke Bo, Tomoo Takahashi, Nobuyuki Ishige, Yuki Hasegawa, Seiji Yamaguchi, Hironori Kobayashi, Kenji Yamada, Makoto Nakamura
Publikováno v:
Molecular genetics and metabolism. 116(3)
Sivelestat sodium (sivelestat), a neutrophil elastase inhibitor, is used to treat acute respiratory distress syndrome (ARDS). We report two cases that developed elevated C5-acylcarnitine (C5-AC) levels following treatment with sivelestat. Case 1 was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a4fcfaee884caa4268af58275dfb52b
https://pubmed.ncbi.nlm.nih.gov/26428892
https://pubmed.ncbi.nlm.nih.gov/26428892