Search Results - "Ishige Mika"

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients by Ogawa, Erika, Shimura, Masaru, Fushimi, Takuya, Tajika, Makiko, Ichimoto, Keiko, Matsunaga, Ayako, Tsuruoka, Tomoko, Ishige, Mika, Fuchigami, Tatsuo, Yamazaki, Taro, Mori, Masato, Kohda, Masakazu, Kishita, Yoshihito, Okazaki, Yasushi, Takahashi, Shori, Ohtake, Akira, Murayama, Kei

“…Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It is clinically diagnosed by typical manifestations and…”
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Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al by Takano, Chika, Ogawa, Erika, Arai-Ichinoi, Natsuko, Ishige, Mika

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Biallelic GALM pathogenic variants cause a novel type of galactosemia by Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo

“…Purpose Galactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir…”
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Hypocarnitinemia Observed in an Infant Treated with Short-Term Administration of Antibiotic Containing Pivalic Acid by Nakazaki, Kimitaka, Ogawa, Erika, Ishige, Mika, Ishige, Nobuyuki, Fuchigami, Tatsuo, Takahashi, Shori

“…Carnitine is a water-soluble amino acid derivative required for β-oxidation of long-chain fatty acids. In carnitine cycle abnormalities and low carnitine…”
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Clinical perspective on the use of human amniotic epithelial cells to treat congenital metabolic diseases with a focus on maple syrup urine disease by Takano, Chika, Grubbs, Brendan H., Ishige, Mika, Ogawa, Erika, Morioka, Ichiro, Hayakawa, Satoshi, Miki, Toshio

“…Congenital metabolic diseases are a group of hereditary disorders caused by the deficiency of a single specific enzyme activity. Without appropriate therapy,…”
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Study protocol: a multicenter, uncontrolled, open-label study of palivizumab in neonates, infants, and preschool children at high risk of severe respiratory syncytial virus infection by Mori, Masaaki, Watabe, Shinichi, Taguchi, Tomoaki, Hasegawa, Hisaya, Ishige, Mika, Tanuma, Naoyuki, Hirakawa, Akihiro, Koike, Ryuji, Kusuda, Satoshi

“…The prophylactic use of anti-respiratory syncytial virus (RSV) antibody (palivizumab) for severe RSV infection is not approved in Japan in specified groups of…”
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Severe rotavirus gastroenteritis in children older than 5 years after vaccine introduction by Kyo, Kiyoshi, Takano, Chika, Kasuga, Yuki, Ogawa, Erika, Ishige, Mika, Pham, Ngan Thi Kim, Okitsu, Shoko, Ushijima, Hiroshi, Urakami, Tatsuhiko, Fuchigami, Tatsuo, Hayakawa, Satoshi, Morioka, Ichiro

“…Rotavirus (RV) is the major pathogen responsible for acute gastroenteritis in infants. Since RV vaccines were introduced, a substantial decline in the…”
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Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity by Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Okada, Satoshi, Sakura, Nobuo, Maruyama, Shinsuke, Noguchi, Atsuko, Awaya, Tomonari, Ishige, Mika, Ishige, Nobuyuki, Musha, Ikuma, Ajihara, Sayaka, Ohtake, Akira, Naito, Etsuo, Hamada, Yusuke, Kono, Tomotaka, Asada, Tomoko, Sasai, Hideo, Fukao, Toshiyuki, Fujiki, Ryoji, Ohara, Osamu, Bo, Ryosuke, Yamada, Kenji, Kobayashi, Hironori, Hasegawa, Yuki, Yamaguchi, Seiji, Takayanagi, Masaki, Hata, Ikue, Shigematsu, Yosuke, Kobayashi, Masao

“…Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder (FAOD). However, newborn…”
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Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency by Shiraishi, Hideaki, Yamada, Kenji, Egawa, Kiyoshi, Ishige, Mika, Ochi, Fumihiro, Watanabe, Asami, Kawakami, Sanae, Kuzume, Kazuyo, Watanabe, Kenji, Sameshima, Koji, Nakamagoe, Kiyotaka, Tamaoka, Akira, Asahina, Naoko, Yokoshiki, Saki, Kobayashi, Keiko, Miyakoshi, Takashi, Oba, Koji, Isoe, Toshiyuki, Hayashi, Hiroshi, Yamaguchi, Seiji, Sato, Norihiro

“…Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a mitochondrial fatty acid oxidation disorder that causes episodic attacks, such as general…”
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Physical, cognitive, and social status of patients with urea cycle disorders in Japan by Kido, Jun, Matsumoto, Shirou, Ito, Tetsuya, Hirose, Shinichi, Fukui, Kaori, Kojima-Ishii, Kanako, Mushimoto, Yuichi, Yoshida, Shinobu, Ishige, Mika, Sakai, Norio, Nakamura, Kimitoshi

“…Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we…”
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Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia by Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Severe hypoglycemic encephalopathy due to hypoallergenic formula in an infant by Ogawa, Erika, Ishige, Mika, Takahashi, Yuno, Kodama, Hiroko, Fuchigami, Tatsuo, Takahashi, Shori

“…A 7‐month‐old girl was brought to hospital due to vomiting. Upon admission, she was in a convulsive state and stupor with extremely low blood glucose. Head…”
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Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis by Ishige, Mika, Fuchigami, Tatsuo, Furukawa, Maki, Kobayashi, Hironori, Fujiki, Ryoji, Ogawa, Erika, Ishige, Nobuyuki, Sasai, Hideo, Fukao, Toshiyuki, Hashimoto, Koji, Inamo, Yasuji, Morioka, Ichiro

“…Rotavirus infection is a major cause of gastroenteritis, which occurs mainly in children. Liver dysfunction due to rotavirus gastroenteritis has been reported;…”
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Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease by Sato, Yuki, Aoki, Ryoji, Nagano, Nobuhiko, Takano, Chika, Seimiya, Ayako, Kato, Ryota, Ogawa, Erika, Ishige, Mika, Okazaki, Yasushi, Murayama, Kei, Morioka, Ichiro

“…Neonatal mitochondrial disease is occasionally observed in patients with intraventricular cysts in the brain. Atypical morphology is rarely seen in these…”
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Biallelic GALM pathogenicvariants cause a novel type of galactosemia by Wada Yoichi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Sakamoto, Osamu, Takezawa Yusuke, Iwasawa Shinya, Niihori Tetsuya, Nyuzuki Hiromi, Nakajima Yoko, Ogawa, Erika, Ishige Mika, Hirai Hiroki, Sasai Hideo, Fujiki Ryoji, Shirota Matsuyuki, Funayama Ryo, Yamamoto Masayuki, Ito Tetsuya, Ohara Osamu, Nakayama Keiko, Aoki Yoko, Koshiba Seizo, Fukao Toshiyuki, Kure Shigeo

“…PurposeGalactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir…”
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Isolation and characterization of neural crest-like progenitor cells in human umbilical cord blood by Al-Bakri, Zena, Ishige-Wada, Mika, Fukuda, Noboru, Yoshida-Noro, Chikako, Nagoshi, Narihito, Okano, Hideyuki, Mugishima, Hideo, Matsumoto, Taro

“…Neural crest (NC)-like stem/progenitor cells provide an attractive cell source for regenerative medicine because of their multipotent property and ease of…”
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Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria by Tokuhara, Yasunori, Shukuya, Kenichi, Tanaka, Masami, Mouri, Mariko, Ohkawa, Ryunosuke, Fujishiro, Midori, Takahashi, Tomoo, Okubo, Shigeo, Yokota, Hiromitsu, Kurano, Makoto, Ikeda, Hitoshi, Yamaguchi, Seiji, Inagaki, Shinobu, Ishige-Wada, Mika, Usui, Hiromi, Yatomi, Yutaka, Shimosawa, Tatsuo

“…Alkaptonuria, caused by a deficiency of homogentisate 1,2-dioxygenase, results in the accumulation of homogentisic acid (2,5-dihydroxyphenylacetic acid, HGA)…”
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Umbilical artery tissue contains p75 neurotrophin receptor-positive pericyte-like cells that possess neurosphere formation capacity and neurogenic differentiation potential by Fujii-Tezuka, Rina, Ishige-Wada, Mika, Nagoshi, Narihito, Okano, Hideyuki, Mugishima, Hideo, Takahashi, Shori, Morioka, Ichiro, Matsumoto, Taro

“…The p75 neurotrophin receptor (p75NTR) is known as an efficient marker for the prospective isolation of mesenchymal stem cells (MSCs) and neural crest-derived…”
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Nutrient management in the intrapartum period in maternal maple syrup urine disease by Takano, Chika, Ishige, Mika, Ogawa, Erika, Nagano, Nobuhiko, Morohashi, Tamaki, Okahashi, Aya, Kawakami, Kaori, Komatsu, Atsushi, Kawana, Kei, Urakami, Tatsuhiko, Morioka, Ichiro

“…Women with congenital amino acid disorders, including maple syrup urine disease (MSUD), are at risk of metabolic crisis at delivery. There are still only a few…”
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Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey by Shiraishi, Hideaki, Yamada, Kenji, Oki, Eishin, Ishige, Mika, Fukao, Toshiyuki, Hamada, Yusuke, Sakai, Norio, Ochi, Fumihiro, Watanabe, Asami, Kawakami, Sanae, Kuzume, Kazuyo, Watanabe, Kenji, Sameshima, Koji, Nakamagoe, Kiyotaka, Tamaoka, Akira, Asahina, Naoko, Yokoshiki, Saki, Miyakoshi, Takashi, Oba, Koji, Isoe, Toshiyuki, Hayashi, Hiroshi, Yamaguchi, Seiji, Sato, Norihiro

“…Fatty acid oxidation disorders (FAODs) are rare diseases caused by a defective mitochondrial fatty acid oxidation (FAO) enzyme. We recently reported that…”
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