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Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency
Inui, Takehiko, Wada, Yoichi, Shibuya, Moriei, Arai-Ichinoi, Natsuko, Okubo, Yukimune, Endo, Wakaba, Uchida, Toshihiko, Togashi, Noriko, Naito, Etsuo, Haginoya, Kazuhiro
Published in Brain & development (Tokyo. 1979) (01.03.2022)
Published in Brain & development (Tokyo. 1979) (01.03.2022)
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Journal Article
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing
Togawa, Takao, Sugiura, Tokio, Ito, Koichi, Endo, Takeshi, Aoyama, Kohei, Ohashi, Kei, Negishi, Yutaka, Kudo, Toyoichiro, Ito, Reiko, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Kure, Shigeo, Saitoh, Shinji
Published in The Journal of pediatrics (01.04.2016)
Published in The Journal of pediatrics (01.04.2016)
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Journal Article
Successful control of maternal phenylketonuria by tetrahydrobiopterin
Sakamoto, Osamu, Arai‐Ichinoi, Natsuko, Murayama, Kei, Kure, Shigeo
Published in Pediatrics International (01.10.2018)
Published in Pediatrics International (01.10.2018)
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Journal Article
Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion
Suzuki, Dai, Umeki, Ikumi, Sogi, Chisumi, Kikuchi, Atsuo, Shima, Hirohito, Kamimura, Miki, Adachi, Mika, Sato, Ryo, Kawashima, Sayaka, Takezawa, Yusuke, Fujiwara, Ikuma, Kawame, Hiroshi, Yamada, Aya, Miura, Akinobu, Kanno, Junko, Arai-Ichinoi, Natsuko
Published in Clinical Pediatric Endocrinology (2025)
Published in Clinical Pediatric Endocrinology (2025)
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Journal Article
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia
Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo
Published in Genetics in Medicine (01.07.2020)
Published in Genetics in Medicine (01.07.2020)
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Journal Article
Patchy white matter hyperintensity in ring chromosome 18 syndrome
Anzai, Mai, Arai‐Ichinoi, Natsuko, Takezawa, Yusuke, Endo, Wakaba, Inui, Takehiko, Sato, Ryo, Kikuchi, Atsuo, Uematsu, Mitsugu, Kure, Shigeo, Haginoya, Kazuhiro
Published in Pediatrics international (01.09.2016)
Published in Pediatrics international (01.09.2016)
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Journal Article
Reversible brain atrophy in glutaric aciduria type 1
Numata-Uematsu, Yurika, Sakamoto, Osamu, Kakisaka, Yosuke, Okubo, Yukimune, Oikawa, Yoshitsugu, Arai-Ichinoi, Natsuko, Kure, Shigeo, Uematsu, Mitsugu
Published in Brain & development (Tokyo. 1979) (01.06.2017)
Published in Brain & development (Tokyo. 1979) (01.06.2017)
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Journal Article
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia
Maruyama, Hidehiko, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Chinen, Yasutsugu, Kure, Shigeo, Mitsubuchi, Hiroshi, Haruna, Hidenori, Sugawara, Hidenori
Published in The Tohoku Journal of Experimental Medicine (01.06.2015)
Published in The Tohoku Journal of Experimental Medicine (01.06.2015)
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Journal Article
Biallelic GALM pathogenic variants cause a novel type of galactosemia
Wada, Yoichi, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Takezawa, Yusuke, Iwasawa, Shinya, Niihori, Tetsuya, Nyuzuki, Hiromi, Nakajima, Yoko, Ogawa, Erika, Ishige, Mika, Hirai, Hiroki, Sasai, Hideo, Fujiki, Ryoji, Shirota, Matsuyuki, Funayama, Ryo, Yamamoto, Masayuki, Ito, Tetsuya, Ohara, Osamu, Nakayama, Keiko, Aoki, Yoko, Koshiba, Seizo, Fukao, Toshiyuki, Kure, Shigeo
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
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Journal Article
Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al
Takano, Chika, Ogawa, Erika, Arai-Ichinoi, Natsuko, Ishige, Mika
Published in Molecular genetics and metabolism reports (01.03.2024)
Published in Molecular genetics and metabolism reports (01.03.2024)
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Journal Article
Hypoketotic hypoglycemia in citrin deficiency: a case report
Wada, Yoichi, Arai-Ichinoi, Natsuko, Kikuchi, Atsuo, Sakamoto, Osamu, Kure, Shigeo
Published in BMC pediatrics (22.09.2020)
Published in BMC pediatrics (22.09.2020)
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Journal Article
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13
Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Matsubara, Yoichi, Saheki, Takeyori, Kobayashi, Keiko, Ohura, Toshihro, Kure, Shigeo
Published in Molecular genetics and metabolism (01.04.2012)
Published in Molecular genetics and metabolism (01.04.2012)
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Journal Article
Mucolipidosis IV: A milder form with novel mutations and serial MRI findings
Shiihara, Takashi, Watanabe, Mio, Moriyama, Kengo, Maruyama, Yasuhiro, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Uematsu, Mitsugu, Sameshima, Kiyoko
Published in Brain & development (Tokyo. 1979) (01.09.2016)
Published in Brain & development (Tokyo. 1979) (01.09.2016)
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Journal Article
Biallelic GALM pathogenicvariants cause a novel type of galactosemia
Wada Yoichi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Sakamoto, Osamu, Takezawa Yusuke, Iwasawa Shinya, Niihori Tetsuya, Nyuzuki Hiromi, Nakajima Yoko, Ogawa, Erika, Ishige Mika, Hirai Hiroki, Sasai Hideo, Fujiki Ryoji, Shirota Matsuyuki, Funayama Ryo, Yamamoto Masayuki, Ito Tetsuya, Ohara Osamu, Nakayama Keiko, Aoki Yoko, Koshiba Seizo, Fukao Toshiyuki, Kure Shigeo
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
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Journal Article
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation
Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Suzuki-Muromoto, Sato, Miyabayashi, Takuya, Togashi, Noriko, Sato, Ryo, Arai-Ichinoi, Natsuko, Kikuchi, Atsuo, Kure, Shigeo, Haginoya, Kazuhiro
Published in Brain & development (Tokyo. 1979) (01.04.2018)
Published in Brain & development (Tokyo. 1979) (01.04.2018)
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Journal Article
Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency
Mikami-Saito, Yasuko, Maekawa, Masamitsu, Wada, Yoichi, Kanno, Tomoe, Kurihara, Ai, Sato, Yuko, Yamamoto, Toshio, Arai-Ichinoi, Natsuko, Kure, Shigeo
Published in Molecular Genetics and Metabolism Reports (01.12.2020)
Published in Molecular Genetics and Metabolism Reports (01.12.2020)
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Journal Article
Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation
Hino-Fukuyo, Naomi, Kikuchi, Atsuo, Iwasaki, Masaki, Sato, Yuko, Kubota, Yuki, Kobayashi, Tomoko, Nakayama, Tojo, Haginoya, Kazuhiro, Arai-Ichinoi, Natsuko, Niihori, Tetsuya, Sato, Ryo, Suzuki, Tasuku, Kudo, Hiroki, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kure, Shigeo
Published in Brain & development (Tokyo. 1979) (01.04.2017)
Published in Brain & development (Tokyo. 1979) (01.04.2017)
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Journal Article
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants
Iwasawa, Shinya, Kikuchi, Atsuo, Wada, Yoichi, Arai-Ichinoi, Natsuko, Sakamoto, Osamu, Tamiya, Gen, Kure, Shigeo
Published in Molecular genetics and metabolism (01.04.2019)
Published in Molecular genetics and metabolism (01.04.2019)
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Journal Article