Search Results - "Fukui, Kaori"

Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency by Matsufuji, Mayumi, Takeshita, Eiko, Nakashima, Masayuki, Watanabe, Yoriko, Fukui, Kaori, Hanai, Toshio, Ishibashi, Hiromi, Takashima, Sachio

“…An adult female patient was diagnosed with arginase 1 deficiency (ARG1-D) at 4 years of age, and had been managed with protein restriction combined with sodium…”
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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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Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report by Masui, Daisuke, Fukahori, Suguru, Mizuochi, Tatsuki, Watanabe, Yoriko, Fukui, Kaori, Ishii, Shinji, Saikusa, Nobuyuki, Hashizume, Naoki, Higashidate, Naruki, Sakamoto, Saki, Takato, Aiko, Yoshiura, Koh-ichiro, Tanaka, Yoshiaki, Yagi, Minoru

“…Background Biliary atresia (BA) cases are generally not associated with congenital abnormalities. However, accurate diagnosis of BA is often challenging…”
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Ultrafiltration behavior of a new type of non-ionic surfactant around the CMC by Mizoguchi, Kensaku, Fukui, Kaori, Yanagishita, Hiroshi, Nakane, Takashi, Nakata, Toru

“…The ultrafiltration (UF) behavior of a surfactant with drag reducing properties was investigated. The UF membrane used was a hydrophilic YM-1 (cut-off 1000)…”
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Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism by Fukui, Kaori, Takahashi, Tomoyuki, Matsunari, Hitomi, Uchikura, Ayuko, Watanabe, Masahito, Nagashima, Hiroshi, Ishihara, Naotada, Kakuma, Tatsuyuki, Watanabe, Yoriko, Yamashita, Yushiro, Yoshino, Makoto

“…Patients with urea cycle disorders intermittently develop episodes of decompensation with hyperammonemia. Although such an episode is often associated with…”
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Diabetes mellitus exacerbates citrin deficiency via glucose toxicity by Watanabe, Yoriko, Numakura, Chikahiko, Tahara, Toshiyuki, Fukui, Kaori, Torimura, Takuji, Hiromatsu, Yuji, Tomotsune, Ken, Yamakawa, Mitsunori, Hayasaka, Kiyoshi

“…Citrin is an aspartate/glutamate carrier that composes the malate-aspartate reduced nicotinamide adenine dinucleotide (NADH) shuttle in the liver. Citrin…”
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Ocular myasthenia gravis patients following the administration of tacrolimus and steroids by Omata, Taku, Fukui, Kaori, Kodama, Kazuo, Watanabe, Yoshimi, Aoyama, Hiromi, Fujii, Katsunori, Shimojo, Naoki

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Japanese patients with mitochondrial 3‑hydroxy‑3‑methylglutaryl‑CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations by Ago, Yasuhiko, Otsuka, Hiroki, Sasai, Hideo, Abdelkreem, Elsayed, Nakama, Mina, Aoyama, Yuka, Matsumoto, Hideki, Fujiki, Ryoji, Ohara, Osamu, Akiyama, Kazumasa, Fukui, Kaori, Watanabe, Yoriko, Nakajima, Yoko, Ohnishi, Hidenori, Ito, Tetsuya, Fukao, Toshiyuki

“…Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the HMGCS2 gene. The present study…”
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Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency by Matsufuji, Mayumi, Takeshita, Eiko, Nakashima, Masayuki, Watanabe, Yoriko, Fukui, Kaori, Hanai, Toshio, Ishibashi, Hiromi, Takashima, Sachio

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