Carnitine palmitoyltransferase II deficiency with a focus on newborn screening von Tajima, Go, Hara, Keiichi, Yuasa, Miori

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A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation von Ishikawa, Ruoyi, Sugimoto, Takamichi, Abe, Takafumi, Ohno, Narumi, Tazuma, Taku, Giga, Mayumi, Naito, Hiroyuki, Kono, Tomoyuki, Nomura, Eiichi, Hara, Keiichi, Yorifuji, Tohru, Yamawaki, Takemori

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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 von 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

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En Route to an Efficient Catalytic Asymmetric Synthesis of AS-3201 von Mashiko, Tomoyuki, Hara, Keiichi, Tanaka, Daisuke, Fujiwara, Yuji, Kumagai, Naoya, Shibasaki, Masakatsu

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Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency von Suzuki, Yuki, Ito, Susumu, Otani, Yui, Nishikawa, Aiko, Eto, Kaoru, Hara, Keiichi, Oguni, Hirokazu, Nagata, Satoru

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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 Jap... von Tajima, Go, Aisaki, Junko, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi

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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 Speci... von Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi

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Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ von 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

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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 von 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

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Mixed La−Li Heterobimetallic Complexes for Tertiary Nitroaldol Resolution von Tosaki, Shin-ya, Hara, Keiichi, Gnanadesikan, Vijay, Morimoto, Hiroyuki, Harada, Shinji, Sugita, Mari, Yamagiwa, Noriyuki, Matsunaga, Shigeki, Shibasaki, Masakatsu

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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 von Tajima, Go, Kagawa, Reiko, Sakura, Fumiaki, Nakamura-Utsunomiya, Akari, Hara, Keiichi, Yuasa, Miori, Hasegawa, Yuki, Sasai, Hideo, Okada, Satoshi

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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 von Sakata, Sonoko, Okada, Satoshi, Aoyama, Kohei, Hara, Keiichi, Tani, Chihiro, Kagawa, Reiko, Utsunomiya-Nakamura, Akari, Miyagawa, Shinichiro, Ogata, Tsutomu, Mizuno, Haruo, Kobayashi, Masao

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Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation von Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Okada, Satoshi, Sakura, Nobuo, Hata, Ikue, Shigematsu, Yosuke, Kobayashi, Masao

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Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan von 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

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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 Remet... von 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

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Mixed La–Li heterobimetallic complexes for tertiary nitroaldol resolution von Hara, Keiichi, Tosaki, Shin-ya, Gnanadesikan, Vijay, Morimoto, Hiroyuki, Harada, Shinji, Sugita, Mari, Yamagiwa, Noriyuki, Matsunaga, Shigeki, Shibasaki, Masakatsu

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Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia von 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

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Clinical Characteristics of Perinatal Lethal Hypophosphatasia: A Report of 6 Cases von 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

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A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency von Ikeda, Naohiro, Maruyama, Shinsuke, Nakano, Kanna, Imakiire, Ryo, Ninomiya, Yumiko, Seki, Shunji, Yanagimoto, Kosuke, Kakihana, Yasuyuki, Hara, Keiichi, Tajima, Go, Okamoto, Yasuhiro, Kawano, Yoshifumi

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Management of advanced‐stage neuroblastoma in a patient with 21‐hydroxalase deficiency von Utsunomiya, Akari N, Okada, Satoshi, Hara, Keiichi, Miki, Mizuka, Mizoguchi, Yoko, Kobayashi, Yoshiyuki, Miyagawa, Shinichiro, Jinno, Kazuhiko, Nakamura, Kazuhiro, Sato, Takashi, Kobayashi, Masao

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