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
Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan
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
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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Journal Article
Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH
Hama, Rina, Kido, Jun, Sugawara, Keishin, Nakamura, Toshiro, Nakamura, Kimitoshi
Published in Human genome variation (20.07.2021)
Published in Human genome variation (20.07.2021)
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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
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review
Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Nakamura, Kimitoshi
Published in Diagnostics (Basel) (27.09.2021)
Published in Diagnostics (Basel) (27.09.2021)
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Journal Article
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report
Hattori, Yusuke, Kido, Jun, Sugawara, Keishin, Sawada, Takaaki, Matsumoto, Shirou, Nakamura, Kimitoshi
Published in Molecular genetics and metabolism reports (01.12.2024)
Published in Molecular genetics and metabolism reports (01.12.2024)
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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
A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review
Kido, Jun, Mitsubuchi, Hiroshi, Watanabe, Takehisa, Sugawara, Keishin, Sasai, Hideo, Fukao, Toshiyuki, Nakamura, Kimitoshi
Published in Human genome variation (08.12.2021)
Published in Human genome variation (08.12.2021)
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Journal Article
Newborn screening for spinal muscular atrophy in Japan: One year of experience
Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Yoshida, Shinichiro, Ozasa, Shiro, Nomura, Keiko, Okada, Kentaro, Fujiyama, Natsumi, Nakamura, Kimitoshi
Published in Molecular genetics and metabolism reports (01.09.2022)
Published in Molecular genetics and metabolism reports (01.09.2022)
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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
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
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan
Hattori, Yusuke, Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Yoshida, Shinichiro, Matsumoto, Shirou, Inoue, Takahito, Hirose, Shinichi, Nakamura, Kimitoshi
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
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Journal Article
Zernike phase contrast electron microscopy of ice-embedded influenza A virus
Yamaguchi, Masashi, Danev, Radostin, Nishiyama, Kiyoto, Sugawara, Keishin, Nagayama, Kuniaki
Published in Journal of structural biology (01.05.2008)
Published in Journal of structural biology (01.05.2008)
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Journal Article
High-risk screening for Gaucher disease in patients with neurological symptoms
Momosaki, Ken, Kido, Jun, Matsumoto, Shirou, Yoshida, Shinichiro, Takei, Atsuko, Miyabayashi, Takuya, Sugawara, Keishin, Endo, Fumio, Nakamura, Kimitoshi
Published in Journal of human genetics (01.06.2018)
Published in Journal of human genetics (01.06.2018)
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Journal Article
Heterozygous c.175C>T variant in PURA gene causes severe developmental delay
Noda, Yusuke, Kido, Jun, Misumi, Yohei, Sugawara, Keishin, Ohori, Sachiko, Fujita, Atsushi, Matsumoto, Naomichi, Ueda, Mitsuharu, Nakamura, Kimitoshi
Published in Clinical case reports (01.09.2023)
Published in Clinical case reports (01.09.2023)
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Journal Article
X-linked intellectual disability related to a novel variant of KLHL15
Kido, Jun, Egami, Kimiyasu, Misumi, Yohei, Sugawara, Keishin, Tsuchida, Naomi, Matsumoto, Naomichi, Ueda, Mitsuharu, Nakamura, Kimitoshi
Published in Human genome variation (14.07.2023)
Published in Human genome variation (14.07.2023)
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Journal Article
Newborn screening for Gaucher disease in Japan
Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Yoshida, Shinichiro, Matsumoto, Shirou, Shimazu, Tomoyuki, Matsushita, Yuki, Inoue, Takahito, Hirose, Shinichi, Endo, Fumio, Nakamura, Kimitoshi
Published in Molecular genetics and metabolism reports (01.06.2022)
Published in Molecular genetics and metabolism reports (01.06.2022)
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Journal Article
Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening
Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Matsumoto, Shirou, Takada, Fumio, Tsuboi, Kazuya, Ohtake, Akira, Endo, Fumio, Nakamura, Kimitoshi
Published in Molecular genetics & genomic medicine (01.11.2020)
Published in Molecular genetics & genomic medicine (01.11.2020)
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Journal Article