A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
Fukuhara, Yasuyuki, Fuji, Naoko, Yamazaki, Narutoshi, Hirakiyama, Asami, Kamioka, Tetsuharu, Seo, Joo-Hyun, Mashima, Ryuichi, Kosuga, Motomichi, Okuyama, Torayuki
Published in Molecular genetics and metabolism reports (01.03.2018)
Published in Molecular genetics and metabolism reports (01.03.2018)
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Journal Article
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype–genotype correlation in Japanese patients with pachydermoperiostosis
Sasaki, Takashi, Niizeki, Hironori, Shimizu, Atsushi, Shiohama, Aiko, Hirakiyama, Asami, Okuyama, Torayuki, Seki, Atsuhito, Kabashima, Kenji, Otsuka, Atsushi, Ishiko, Akira, Tanese, Keiji, Miyakawa, Shun-ichi, Sakabe, Jun-ichi, Kuwahara, Masamitsu, Amagai, Masayuki, Okano, Hideyuki, Suematsu, Makoto, Kudoh, Jun
Published in Journal of dermatological science (01.10.2012)
Published in Journal of dermatological science (01.10.2012)
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Journal Article
Transcriptome tomography for brain analysis in the web-accessible anatomical space
Okamura-Oho, Yuko, Shimokawa, Kazuro, Takemoto, Satoko, Hirakiyama, Asami, Nakamura, Sakiko, Tsujimura, Yuki, Nishimura, Masaomi, Kasukawa, Takeya, Masumoto, Koh-hei, Nikaido, Itoshi, Shigeyoshi, Yasufumi, Ueda, Hiroki R, Song, Gang, Gee, James, Himeno, Ryutaro, Yokota, Hideo
Published in PloS one (19.09.2012)
Published in PloS one (19.09.2012)
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Journal Article
Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses
Oboshi, Wataru, Tanaka, Misa, Hirakiyama, Asami, Seo, Joo-Hyun, Ohtake, Akira, Murayama, Kei, Okuyama, Torayuki
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Retinoic Acid Imprints Gut-Homing Specificity on T Cells
Iwata, Makoto, Hirakiyama, Asami, Eshima, Yuko, Kagechika, Hiroyuki, Kato, Chieko, Song, Si-Young
Published in Immunity (Cambridge, Mass.) (01.10.2004)
Published in Immunity (Cambridge, Mass.) (01.10.2004)
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Journal Article
Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene
Ozono, Tatsuhiko, Kinoshita, Makoto, Narita, Aya, Hirakiyama, Asami, Kosuga, Motomichi, Okuyama, Torayuki, Fukada, Kei
Published in Journal of the neurological sciences (15.05.2018)
Published in Journal of the neurological sciences (15.05.2018)
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Journal Article
Phenotype-genotype correlation in Japanese patients with mucopolysaccharidosis type ΙΙ
Okuyama, Torayuki, Kosuga, Motomichi, Hirakiyama, Asami, Mashima, Ryuichi
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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Journal Article
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase
Kosuga, Motomichi, Mashima, Ryuichi, Hirakiyama, Asami, Fuji, Naoko, Kumagai, Tadayuki, Seo, Joo-Hyun, Nikaido, Mari, Saito, Seiji, Ohno, Kazuki, Sakuraba, Hitoshi, Okuyama, Torayuki
Published in Molecular genetics and metabolism (01.07.2016)
Published in Molecular genetics and metabolism (01.07.2016)
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Journal Article
Prostaglandin E2 increase in pachydermoperiostosis without 15-hydroprostaglandin dehydrogenase mutations
Nakahigashi, Kyoko, Otsuka, Atsushi, Doi, Hiromi, Tanaka, Satsuki, Okajima, Yoshiaki, Niizeki, Hironori, Hirakiyama, Asami, Miyachi, Yoshiki, Kabashima, Kenji
Published in Acta dermato-venereologica (01.01.2013)
Published in Acta dermato-venereologica (01.01.2013)
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Journal Article
Prostaglandin E2 increase in pachydermoperiostosis without 15-hydroprostaglandin dehydrogenase mutations
Nakahigashi, Kyoko, Otsuka, Atsushi, Doi, Hiromi, Tanaka, Satsuki, Okajima, Yoshiaki, Niizeki, Hironori, Hirakiyama, Asami, Miyachi, Yoshiki, Kabashima, Kenji
Published in Acta dermato-venereologica (01.01.2013)
Published in Acta dermato-venereologica (01.01.2013)
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