Urea cycle disorders-update von Matsumoto, Shirou, Häberle, Johannes, Kido, Jun, Mitsubuchi, Hiroshi, Endo, Fumio, Nakamura, Kimitoshi

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Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients von Momosaki, Ken, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Miyamoto, Tatsuki, Inoue, Takahito, Okumiya, Toshika, Matsumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, Kimitoshi

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Methionine Metabolism Regulates Maintenance and Differentiation of Human Pluripotent Stem Cells von Shiraki, Nobuaki, Shiraki, Yasuko, Tsuyama, Tomonori, Obata, Fumiaki, Miura, Masayuki, Nagae, Genta, Aburatani, Hiroyuki, Kume, Kazuhiko, Endo, Fumio, Kume, Shoen

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Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment von Kido, Jun, Matsumoto, Shirou, Mitsubuchi, Hiroshi, Endo, Fumio, Nakamura, Kimitoshi

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LSD1 mediates metabolic reprogramming by glucocorticoids during myogenic differentiation von 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

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Unexpectedly High Prevalence of Coronary Spastic Angina in Patients With Anderson-Fabry Disease von Kitani, Yuya, Nakagawa, Naoki, Sakamoto, Naka, Takeuchi, Toshiharu, Takahashi, Fumihiko, Momosaki, Ken, Nakamura, Kimitoshi, Endo, Fumio, Maruyama, Hiroki, Hasebe, Naoyuki

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Pharmacokinetics, safety, and tolerability of sodium phenylacetate and sodium benzoate in healthy Japanese volunteers: A phase I, single-center, open-label study von Endo, Fumio, Nakamura, Kimitoshi, Sano, Yuuhei, Dote, Nobuhito, Shimizu, Kohei, Koumura, Emiko

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Current status of newborn screening for Pompe disease in Japan von 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

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Effect of AlN addition on the reaction sintering of Al2TiO5 composites fabricated by spark plasma sintering von Kitiwan, Mettaya, Atong, Duangduen, Endo, Fumio, Goto, Takashi

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Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients von Nagamatsu, Kiyoshiro, Sekijima, Yoshiki, Nakamura, Katsuya, Nakamura, Kimitoshi, Hattori, Kiyoko, Ota, Masao, Shimizu, Yusaku, Endo, Fumio, Ikeda, Shu-Ichi

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Diagnosis and treatment of urea cycle disorder in Japan von Nakamura, Kimitoshi, Kido, Jun, Mitsubuchi, Hiroshi, Endo, Fumio

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Fabry disease screening in high-risk populations in Japan: a nationwide study von Yoshida, Shinichiro, Kido, Jun, Sawada, Takaaki, Momosaki, Ken, Sugawara, Keishin, Matsumoto, Shirou, Endo, Fumio, Nakamura, Kimitoshi

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Biochemical and clinical features of hereditary hyperprolinemia von Mitsubuchi, Hiroshi, Nakamura, Kimitoshi, Matsumoto, Shirou, Endo, Fumio

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Plasma exchange and chelator therapy rescues acute liver failure in Wilson disease without liver transplantation von Kido, Jun, Matsumoto, Shirou, Momosaki, Ken, Sakamoto, Rieko, Mitsubuchi, Hiroshi, Inomata, Yukihiro, Endo, Fumio, Nakamura, Kimitoshi

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High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations von Nakagawa, Naoki, Sawada, Jun, Sakamoto, Naka, Takeuchi, Toshiharu, Takahashi, Fumihiko, Maruyama, Jun-Ich, Momosaki, Ken, Nakamura, Kimitoshi, Endo, Fumio, Hasebe, Naoyuki

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Newborn screening for Fabry disease in the western region of Japan von Sawada, Takaaki, Kido, Jun, Yoshida, Shinichiro, Sugawara, Keishin, Momosaki, Ken, Inoue, Takahito, Tajima, Go, Sawada, Hirotake, Mastumoto, Shirou, Endo, Fumio, Hirose, Shinichi, Nakamura, Kimitoshi

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Long-term outcome and intervention of urea cycle disorders in Japan von Kido, Jun, Nakamura, Kimitoshi, Mitsubuchi, Hiroshi, Ohura, Toshihiro, Takayanagi, Masaki, Matsuo, Masafumi, Yoshino, Makoto, Shigematsu, Yosuke, Yorifuji, Tohru, Kasahara, Mureo, Horikawa, Reiko, Endo, Fumio

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Diagnosis and treatment of hereditary tyrosinemia in Japan von Nakamura, Kimitoshi, Matsumoto, Shirou, Mitsubuchi, Hiroshi, Endo, Fumio

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Prenatal diagnosis of Gaucher disease using next-generation sequencing von Yoshida, Shinichiro, Kido, Jun, Matsumoto, Shirou, Momosaki, Ken, Mitsubuchi, Hiroshi, Shimazu, Tomoyuki, Sugawara, Keishin, Endo, Fumio, Nakamura, Kimitoshi

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Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes von Kido, Jun, Nakamura, Kimitoshi, Matsumoto, Shirou, Mitsubuchi, Hiroshi, Ohura, Toshihiro, Shigematsu, Yosuke, Yorifuji, Tohru, Kasahara, Mureo, Horikawa, Reiko, Endo, Fumio

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