A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation
Ishikawa, Ruoyi, Sugimoto, Takamichi, Abe, Takafumi, Ohno, Narumi, Tazuma, Taku, Giga, Mayumi, Naito, Hiroyuki, Kono, Tomoyuki, Nomura, Eiichi, Hara, Keiichi, Yorifuji, Tohru, Yamawaki, Takemori
Published in Internal Medicine (01.05.2022)
Published in Internal Medicine (01.05.2022)
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The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening
Osawa, Yoshimitsu, Kobayashi, Hironori, Tajima, Go, Hara, Keiichi, Yamada, Kenji, Fukuda, Seiji, Hasegawa, Yuki, Aisaki, Junko, Yuasa, Miori, Hata, Ikue, Okada, Satoshi, Shigematsu, Yosuke, Sasai, Hideo, Fukao, Toshiyuki, Takizawa, Takumi, Yamaguchi, Seiji, Taketani, Takeshi
Published in Molecular genetics and metabolism (01.05.2022)
Published in Molecular genetics and metabolism (01.05.2022)
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En Route to an Efficient Catalytic Asymmetric Synthesis of AS-3201
Mashiko, Tomoyuki, Hara, Keiichi, Tanaka, Daisuke, Fujiwara, Yuji, Kumagai, Naoya, Shibasaki, Masakatsu
Published in Journal of the American Chemical Society (19.09.2007)
Published in Journal of the American Chemical Society (19.09.2007)
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Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency
Suzuki, Yuki, Ito, Susumu, Otani, Yui, Nishikawa, Aiko, Eto, Kaoru, Hara, Keiichi, Oguni, Hirokazu, Nagata, Satoru
Published in Brain & development (Tokyo. 1979) (01.05.2021)
Published in Brain & development (Tokyo. 1979) (01.05.2021)
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Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity
Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi
Published in International journal of neonatal screening (27.10.2023)
Published in International journal of neonatal screening (27.10.2023)
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Journal Article
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan
Tajima, Go, Aisaki, Junko, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi
Published in International journal of neonatal screening (20.02.2024)
Published in International journal of neonatal screening (20.02.2024)
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Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ
Hiyama, Takeshi Y., Utsunomiya, Akari N., Matsumoto, Masahito, Fujikawa, Akihiro, Lin, Chia‐Hao, Hara, Keiichi, Kagawa, Reiko, Okada, Satoshi, Kobayashi, Masao, Ishikawa, Mayumi, Anzo, Makoto, Cho, Hideo, Takayasu, Shinobu, Nigawara, Takeshi, Daimon, Makoto, Sato, Tomohiko, Terui, Kiminori, Ito, Etsuro, Noda, Masaharu
Published in Brain pathology (Zurich, Switzerland) (01.05.2017)
Published in Brain pathology (Zurich, Switzerland) (01.05.2017)
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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
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
Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
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Mixed La−Li Heterobimetallic Complexes for Tertiary Nitroaldol Resolution
Tosaki, Shin-ya, Hara, Keiichi, Gnanadesikan, Vijay, Morimoto, Hiroyuki, Harada, Shinji, Sugita, Mari, Yamagiwa, Noriyuki, Matsunaga, Shigeki, Shibasaki, Masakatsu
Published in Journal of the American Chemical Society (13.09.2006)
Published in Journal of the American Chemical Society (13.09.2006)
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Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant
Tajima, Go, Kagawa, Reiko, Sakura, Fumiaki, Nakamura-Utsunomiya, Akari, Hara, Keiichi, Yuasa, Miori, Hasegawa, Yuki, Sasai, Hideo, Okada, Satoshi
Published in International journal of neonatal screening (28.06.2021)
Published in International journal of neonatal screening (28.06.2021)
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Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D , a Gene Associated with Kabuki Syndrome: A Case Report
Sakata, Sonoko, Okada, Satoshi, Aoyama, Kohei, Hara, Keiichi, Tani, Chihiro, Kagawa, Reiko, Utsunomiya-Nakamura, Akari, Miyagawa, Shinichiro, Ogata, Tsutomu, Mizuno, Haruo, Kobayashi, Masao
Published in Frontiers in genetics (11.12.2017)
Published in Frontiers in genetics (11.12.2017)
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Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation
Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Okada, Satoshi, Sakura, Nobuo, Hata, Ikue, Shigematsu, Yosuke, Kobayashi, Masao
Published in Molecular genetics and metabolism (01.12.2016)
Published in Molecular genetics and metabolism (01.12.2016)
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Journal Article
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan
Hara, Keiichi, Tajima, Go, Okada, Satoshi, Tsumura, Miyuki, Kagawa, Reiko, Shirao, Kenichiro, Ohno, Yoshinori, Yasunaga, Shin'ichiro, Ohtsubo, Motoaki, Hata, Ikue, Sakura, Nobuo, Shigematsu, Yosuke, Takihara, Yoshihiro, Kobayashi, Masao
Published in Molecular genetics and metabolism (01.05.2016)
Published in Molecular genetics and metabolism (01.05.2016)
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Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation
Kagawa, Reiko, Tajima, Go, Maeda, Takako, Sakura, Fumiaki, Nakamura-Utsunomiya, Akari, Hara, Keiichi, Nishimura, Yutaka, Yuasa, Miori, Shigematsu, Yosuke, Tanaka, Hiromi, Fujihara, Saki, Yoshii, Chiyoko, Okada, Satoshi
Published in International journal of neonatal screening (07.07.2021)
Published in International journal of neonatal screening (07.07.2021)
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Mixed La–Li heterobimetallic complexes for tertiary nitroaldol resolution
Hara, Keiichi, Tosaki, Shin-ya, Gnanadesikan, Vijay, Morimoto, Hiroyuki, Harada, Shinji, Sugita, Mari, Yamagiwa, Noriyuki, Matsunaga, Shigeki, Shibasaki, Masakatsu
Published in Tetrahedron (27.06.2009)
Published in Tetrahedron (27.06.2009)
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Conference Proceeding
Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia
Daijo, Kana, Kawaoka, Tomokazu, Nakahara, Takashi, Nagaoki, Yuko, Tsuge, Masataka, Hiramatsu, Akira, Imamura, Michio, Kawakami, Yoshiiku, Aikata, Hiroshi, Hara, Keiichi, Tajima, Go, Kobayashi, Masao, Chayama, Kazuaki
Published in Clinical journal of gastroenterology (01.08.2017)
Published in Clinical journal of gastroenterology (01.08.2017)
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A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency
Ikeda, Naohiro, Maruyama, Shinsuke, Nakano, Kanna, Imakiire, Ryo, Ninomiya, Yumiko, Seki, Shunji, Yanagimoto, Kosuke, Kakihana, Yasuyuki, Hara, Keiichi, Tajima, Go, Okamoto, Yasuhiro, Kawano, Yoshifumi
Published in Molecular genetics and metabolism reports (01.06.2017)
Published in Molecular genetics and metabolism reports (01.06.2017)
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Clinical Characteristics of Perinatal Lethal Hypophosphatasia: A Report of 6 Cases
Nakamura-Utsunomiya, Akari, Okada, Satoshi, Hara, Keiichi, Miyagawa, Shinichiro, Takeda, Kanae, Fukuhara, Rie, Nakata, Yusei, Hayashidani, Michiko, Tachikawa, Kanako, Michigami, Toshimi, Ozono, Keiichi, Kobayashi, Masao
Published in Clinical Pediatric Endocrinology (2010)
Published in Clinical Pediatric Endocrinology (2010)
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