Search Results - "Tanaka, Toju"

Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan by Kido, Jun, Häberle, Johannes, Sugawara, Keishin, Tanaka, Toju, Nagao, Masayoshi, Sawada, Takaaki, Wada, Yoichi, Numakura, Chikahiko, Murayama, Kei, Watanabe, Yoriko, Kojima‐Ishii, Kanako, Sasai, Hideo, Kosugiyama, Kiyotaka, Nakamura, Kimitoshi

“…Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. The disease can present with age‐dependent clinical…”
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Surveillance in hospitalized children with infectious diseases in Japan: Pre- and post-coronavirus disease 2019 by Fukuda, Yuya, Tsugawa, Takeshi, Nagaoka, Yoshinobu, Ishii, Akira, Nawa, Tomohiro, Togashi, Atsuo, Kunizaki, Jun, Hirakawa, Satoshi, Iida, Junya, Tanaka, Toju, Kizawa, Toshitaka, Yamamoto, Dai, Takeuchi, Ryoh, Sakai, Yoshiyuki, Kikuchi, Masayoshi, Nagai, Kazushige, Asakura, Hirofumi, Tanaka, Rina, Yoshida, Masaki, Hamada, Ryo, Kawasaki, Yukihiko

“…The epidemic of coronavirus disease 2019 (COVID-19) rapidly spread worldwide, and the various infection control measures have a significant influence on the…”
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Molecular evolutionary analysis of novel NSP4 mono-reassortant G1P[8]-E2 rotavirus strains that caused a discontinuous epidemic in Japan in 2015 and 2018 by Fujii, Yoshiki, Tsugawa, Takeshi, Fukuda, Yuya, Adachi, Shuhei, Honjo, Saho, Akane, Yusuke, Kondo, Kenji, Sakai, Yoshiyuki, Tanaka, Toju, Sato, Toshiya, Higasidate, Yoshihito, Kubo, Noriaki, Mori, Toshihiko, Kato, Shinsuke, Hamada, Ryo, Kikuchi, Masayoshi, Tahara, Yasuo, Nagai, Kazushige, Ohara, Toshio, Yoshida, Masaki, Nakata, Shuji, Noguchi, Atsuko, Kikuchi, Wakako, Hamada, Hiromichi, Tokutake-Hirose, Shoko, Fujimori, Makoto, Muramatsu, Masamichi

“…In the 2010s, several unusual rotavirus strains emerged, causing epidemics worldwide. This study reports a comprehensive molecular epidemiological study of…”
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Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry by Shigetomi, Hiroko, Tanaka, Toju, Nagao, Masayoshi, Tsutsumi, Hiroyuki

“…Citrullinemia is the earliest identifiable biochemical abnormality in neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has been…”
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A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping by Hida, Tokimasa, Okura, Masae, Tanaka, Toju, Yamashita, Toshiharu

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Newborn screening for Pompe disease in Japan by Oda, Eri, Tanaka, Toju, Migita, Ohsuke, Kosuga, Motomichi, Fukushi, Masaru, Okumiya, Toshika, Osawa, Makiko, Okuyama, Torayuki

“…Pompe disease is caused by a deficiency of acid alpha-glucosidase (GAA) that results in glycogen accumulation, primarily in muscle. Newborn screening (NBS) for…”
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A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene by Fukao, Toshiyuki, Horikawa, Reiko, Naiki, Yasuhiro, Tanaka, Toju, Takayanagi, Masaki, Yamaguchi, Seiji, Kondo, Naomi

“…Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inherited disorder affecting isoleucine catabolism and ketone body metabolism. A Japanese female…”
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HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome by Niihori, Tetsuya, Aoki, Yoko, Okamoto, Nobuhiko, Kurosawa, Kenji, Ohashi, Hirofumi, Mizuno, Seiji, Kawame, Hiroshi, Inazawa, Johji, Ohura, Toshihiro, Arai, Hiroshi, Nabatame, Shin, Kikuchi, Kiyoshi, Kuroki, Yoshikazu, Miura, Masaru, Tanaka, Toju, Ohtake, Akira, Omori, Isaku, Ihara, Kenji, Mabe, Hiroyo, Watanabe, Kyoko, Niijima, Shinichi, Okano, Erika, Numabe, Hironao, Matsubara, Yoichi

“…Costello syndrome (CS) is a congenital disease that is characterized by a distinctive facial appearance, failure to thrive, mental retardation and…”
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Application of Mutation Analysis for the Previously Uncertain Cases of Adult-Onset Type II Citrullinemia (CTLN2) and Their Clinical Profiles by TANAKA, TOJU, NAGAO, MASAYOSHI, TSUTSUMI, HIROYUKI

“…Type II citrullinemia (CTLN2) is characterized by a deficiency of argininosuccinate synthetase (ASS) in the liver. Mutation analysis of the SLC25A13 gene,…”
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Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome by Kishita, Yoshihito, Sugiura, Ayumu, Omichi, Nanako, Shimura, Masaru, Yatsuka, Yukiko, Nakamura, Kohta, Tanaka, Toju, Kubota, Mitsuru, Murayama, Kei, Ohtake, Akira, Okazaki, Yasushi

“…ABSTRACT Background The mitochondrial contact site and cristae organising system (MICOS) complex is required for cristae formation and is composed of seven…”
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Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening by Kido, Jun, Häberle, Johannes, Tanaka, Toju, Nagao, Masayoshi, Wada, Yoichi, Numakura, Chikahiko, Bo, Ryosuke, Nyuzuki, Hiromi, Dateki, Sumito, Maruyama, Shinsuke, Murayama, Kei, Yoshida, Shinichiro, Nakamura, Kimitoshi

“…Abstract Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in the SLC25A13 gene. Intrahepatic…”
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Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan by Nagao, Masayoshi, Tanaka, Toju, Furujo, Mahoko

“…Methionine adenosyltransferase I/III deficiency (MAT I/III deficiency) is an inborn error of metabolism that results in isolated persistent hypermethioninemia…”
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A Novel Stop Codon Mutation (X465Y) in the Argininosuccinate Lyase Gene in a Patient with Argininosuccinic Aciduria by TANAKA, TOJU, NAGAO, MASAYOSHI, MORI, TOSHIHIKO, TSUTSUMI, HIROYUKI

“…Argininosuccinate lyase (ASL) deficiency (McKusick 207900) is a rare autosomal recessive disorder affecting the urea cycle. The cardinal symptom in the…”
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Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan by Tanaka, Akemi, Okuyama, Torayuki, Suzuki, Yasuyuki, Sakai, Norio, Takakura, Hiromitsu, Sawada, Tomo, Tanaka, Toju, Otomo, Takanobu, Ohashi, Toya, Ishige-Wada, Mika, Yabe, Hiromasa, Ohura, Toshihiro, Suzuki, Nobuhiro, Kato, Koji, Adachi, Souichi, Kobayashi, Ryoji, Mugishima, Hideo, Kato, Shunichi

“…Hematopoietic stem cell transplantation (HSCT) has not been indicated for patients with mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is…”
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Abnormalities in the development of adrenal gland by Tanaka, Toju, Umezawa, Akihiro, Tsutsumi, Hiroyuki

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Changing Patterns of Infectious Diseases Among Hospitalized Children in Hokkaido, Japan, in the Post-COVID-19 Era, July 2019 to June 2022 by Fukuda, Yuya, Togashi, Atsuo, Hirakawa, Satoshi, Yamamoto, Masaki, Fukumura, Shinobu, Nawa, Tomohiro, Honjo, Saho, Kunizaki, Jun, Nishino, Kouhei, Tanaka, Toju, Kizawa, Toshitaka, Yamamoto, Dai, Takeuchi, Ryoh, Sasaoka, Yuta, Kikuchi, Masayoshi, Ito, Takuro, Nagai, Kazushige, Asakura, Hirofumi, Kudou, Katsumasa, Yoshida, Masaki, Nishida, Takeshi, Tsugawa, Takeshi

“…Many reports have reported a reduction in respiratory infectious diseases and infectious gastroenteritis immediately after the coronavirus disease 2019…”
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Japan Elaprase ® Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II) by Okuyama, Torayuki, Tanaka, Akemi, Suzuki, Yasuyuki, Ida, Hiroyuki, Tanaka, Toju, Cox, Gerald F., Eto, Yoshikatsu, Orii, Tadao

“…This open-label clinical study enrolled 10 adults with attenuated Mucopolysaccharidosis II and advanced disease under the direction of the Japan Society for…”
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Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan by Mikami-Saito, Yasuko, Wada, Yoichi, Arai-Ichinoi, Natsuko, Nakajima, Yoko, Suzuki-Ajihara, Sayaka, Murayama, Kei, Tanaka, Toju, Numakura, Chikahiko, Hamazaki, Takashi, Igarashi, Noboru, Esaki, Hiroyuki, Kagawa, Reiko, Kono, Tomotaka, Sawada, Takaaki, Sawada, Tomo, Nyuzuki, Hiromi, Hirai, Hiroki, Fumoto, Seiko, Matsuda, Junko, Matsunaga, Ayako, Maruyama, Shinsuke, Yamaguchi, Kenichiro, Yoshino, Miwa, Totsune, Eriko, Kikuchi, Atsuo, Ohura, Toshihiro, Kure, Shigeo

“…Galactose mutarotase (GALM) deficiency was first reported in 2019 as the fourth type of galactosemia. This study aimed to investigate the clinical and…”
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Resurgence of human metapneumovirus infection and influenza after three seasons of inactivity in the post‐COVID‐19 era in Hokkaido, Japan, 2022–2023 by Fukuda, Yuya, Togashi, Atsuo, Hirakawa, Satoshi, Yamamoto, Masaki, Fukumura, Shinobu, Nawa, Tomohiro, Honjo, Saho, Kunizaki, Jun, Nishino, Kouhei, Tanaka, Toju, Kizawa, Toshitaka, Yamamoto, Dai, Takeuchi, Ryoh, Sasaoka, Yuta, Kikuchi, Masayoshi, Ito, Takuro, Nagai, Kazushige, Asakura, Hirofumi, Kudou, Katsumasa, Yoshida, Masaki, Nishida, Takeshi, Tsugawa, Takeshi

“…Following the coronavirus disease 2019 (COVID‐19) outbreak in February 2020, incidences of various infectious diseases decreased notably in Hokkaido…”
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Molecular evolutionary analysis of novel NSP4 mono-reassortant G1P8-E2 rotavirus strains that caused a discontinuous epidemic in Japan in 2015 and 2018 by Fujii, Yoshiki, Tsugawa, Takeshi, Fukuda, Yuya, Adachi, Shuhei, Honjo, Saho, Akane, Yusuke, Kondo, Kenji, Sakai, Yoshiyuki, Tanaka, Toju, Sato, Toshiya, Higasidate, Yoshihito, Kubo, Noriaki, Mori, Toshihiko, Kato, Shinsuke, Hamada, Ryo, Kikuchi, Masayoshi, Tahara, Yasuo, Nagai, Kazushige, Ohara, Toshio, Yoshida, Masaki, Nakata, Shuji, Noguchi, Atsuko, Kikuchi, Wakako, Hamada, Hiromichi, Tokutake-Hirose, Shoko, Fujimori, Makoto, Muramatsu, Masamichi

“…In the 2010s, several unusual rotavirus strains emerged, causing epidemics worldwide. This study reports a comprehensive molecular epidemiological study of…”
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