Urea cycle disorders-update
Matsumoto, Shirou, Häberle, Johannes, Kido, Jun, Mitsubuchi, Hiroshi, Endo, Fumio, Nakamura, Kimitoshi
Published in Journal of human genetics (01.09.2019)
Published in Journal of human genetics (01.09.2019)
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Journal Article
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients
Momosaki, Ken, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Miyamoto, Tatsuki, Inoue, Takahito, Okumiya, Toshika, Matsumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, Kimitoshi
Published in Journal of human genetics (01.08.2019)
Published in Journal of human genetics (01.08.2019)
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Journal Article
Methionine Metabolism Regulates Maintenance and Differentiation of Human Pluripotent Stem Cells
Shiraki, Nobuaki, Shiraki, Yasuko, Tsuyama, Tomonori, Obata, Fumiaki, Miura, Masayuki, Nagae, Genta, Aburatani, Hiroyuki, Kume, Kazuhiko, Endo, Fumio, Kume, Shoen
Published in Cell metabolism (06.05.2014)
Published in Cell metabolism (06.05.2014)
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Journal Article
Pharmacokinetics, safety, and tolerability of sodium phenylacetate and sodium benzoate in healthy Japanese volunteers: A phase I, single-center, open-label study
Endo, Fumio, Nakamura, Kimitoshi, Sano, Yuuhei, Dote, Nobuhito, Shimizu, Kohei, Koumura, Emiko
Published in Drug metabolism and pharmacokinetics (01.02.2023)
Published in Drug metabolism and pharmacokinetics (01.02.2023)
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Journal Article
LSD1 mediates metabolic reprogramming by glucocorticoids during myogenic differentiation
Anan, Kotaro, Hino, Shinjiro, Shimizu, Noriaki, Sakamoto, Akihisa, Nagaoka, Katsuya, Takase, Ryuta, Kohrogi, Kensaku, Araki, Hirotaka, Hino, Yuko, Usuki, Shingo, Oki, Shinya, Tanaka, Hirotoshi, Nakamura, Kimitoshi, Endo, Fumio, Nakao, Mitsuyoshi
Published in Nucleic acids research (20.06.2018)
Published in Nucleic acids research (20.06.2018)
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Journal Article
Unexpectedly High Prevalence of Coronary Spastic Angina in Patients With Anderson-Fabry Disease
Kitani, Yuya, Nakagawa, Naoki, Sakamoto, Naka, Takeuchi, Toshiharu, Takahashi, Fumihiko, Momosaki, Ken, Nakamura, Kimitoshi, Endo, Fumio, Maruyama, Hiroki, Hasebe, Naoyuki
Published in Circulation Journal (25.01.2019)
Published in Circulation Journal (25.01.2019)
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Journal Article
Current status of newborn screening for Pompe disease in Japan
Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Momosaki, Ken, Yoshida, Shinichiro, Kojima-Ishii, Kanako, Inoue, Takahito, Matsumoto, Shirou, Endo, Fumio, Ohga, Shouichi, Hirose, Shinichi, Nakamura, Kimitoshi
Published in Orphanet journal of rare diseases (18.12.2021)
Published in Orphanet journal of rare diseases (18.12.2021)
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Journal Article
Fabry disease screening in high-risk populations in Japan: a nationwide study
Yoshida, Shinichiro, Kido, Jun, Sawada, Takaaki, Momosaki, Ken, Sugawara, Keishin, Matsumoto, Shirou, Endo, Fumio, Nakamura, Kimitoshi
Published in Orphanet journal of rare diseases (26.08.2020)
Published in Orphanet journal of rare diseases (26.08.2020)
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Journal Article
Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients
Nagamatsu, Kiyoshiro, Sekijima, Yoshiki, Nakamura, Katsuya, Nakamura, Kimitoshi, Hattori, Kiyoko, Ota, Masao, Shimizu, Yusaku, Endo, Fumio, Ikeda, Shu-Ichi
Published in Journal of human genetics (01.07.2017)
Published in Journal of human genetics (01.07.2017)
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Journal Article
Diagnosis and treatment of urea cycle disorder in Japan
Nakamura, Kimitoshi, Kido, Jun, Mitsubuchi, Hiroshi, Endo, Fumio
Published in Pediatrics international (01.08.2014)
Published in Pediatrics international (01.08.2014)
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Journal Article
Biochemical and clinical features of hereditary hyperprolinemia
Mitsubuchi, Hiroshi, Nakamura, Kimitoshi, Matsumoto, Shirou, Endo, Fumio
Published in Pediatrics international (01.08.2014)
Published in Pediatrics international (01.08.2014)
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Journal Article
Newborn screening for lysosomal storage disorders
Nakamura, Kimitoshi, Hattori, Kiyoko, Endo, Fumio
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2011)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2011)
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Journal Article
High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations
Nakagawa, Naoki, Sawada, Jun, Sakamoto, Naka, Takeuchi, Toshiharu, Takahashi, Fumihiko, Maruyama, Jun-Ich, Momosaki, Ken, Nakamura, Kimitoshi, Endo, Fumio, Hasebe, Naoyuki
Published in Journal of human genetics (01.09.2019)
Published in Journal of human genetics (01.09.2019)
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Journal Article
Newborn screening for Fabry disease in the western region of Japan
Sawada, Takaaki, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Momosaki, Ken, Inoue, Takahito, Tajima, Go, Sawada, Hirotake, Mastumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, Kimitoshi
Published in Molecular genetics and metabolism reports (01.03.2020)
Published in Molecular genetics and metabolism reports (01.03.2020)
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Journal Article
Plasma exchange and chelator therapy rescues acute liver failure in Wilson disease without liver transplantation
Kido, Jun, Matsumoto, Shirou, Momosaki, Ken, Sakamoto, Rieko, Mitsubuchi, Hiroshi, Inomata, Yukihiro, Endo, Fumio, Nakamura, Kimitoshi
Published in Hepatology research (01.03.2017)
Published in Hepatology research (01.03.2017)
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Journal Article
Long-term outcome and intervention of urea cycle disorders in Japan
Kido, Jun, Nakamura, Kimitoshi, Mitsubuchi, Hiroshi, Ohura, Toshihiro, Takayanagi, Masaki, Matsuo, Masafumi, Yoshino, Makoto, Shigematsu, Yosuke, Yorifuji, Tohru, Kasahara, Mureo, Horikawa, Reiko, Endo, Fumio
Published in Journal of inherited metabolic disease (01.09.2012)
Published in Journal of inherited metabolic disease (01.09.2012)
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Journal Article
Diagnosis and treatment of hereditary tyrosinemia in Japan
Nakamura, Kimitoshi, Matsumoto, Shirou, Mitsubuchi, Hiroshi, Endo, Fumio
Published in Pediatrics international (01.02.2015)
Published in Pediatrics international (01.02.2015)
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Journal Article
Prenatal diagnosis of Gaucher disease using next-generation sequencing
Yoshida, Shinichiro, Kido, Jun, Matsumoto, Shirou, Momosaki, Ken, Mitsubuchi, Hiroshi, Shimazu, Tomoyuki, Sugawara, Keishin, Endo, Fumio, Nakamura, Kimitoshi
Published in Pediatrics international (01.09.2016)
Published in Pediatrics international (01.09.2016)
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Journal Article