• 1054 Citations
  • 17 h-Index
1985 …2019

Research output per year

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Fingerprint Dive into the research topics where Tetsuya Ito is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Assessment of factors associated with mizoribine responsiveness in children with steroid-dependent nephrotic syndrome

Kondoh, T., Ikezumi, Y., Yokoi, K., Nakajima, Y., Matsumoto, Y., Kaneko, M., Hasegawa, H., Yamada, T., Kumagai, N., Ito, T. & Yoshikawa, T., 01-09-2019, In : Clinical and Experimental Nephrology. 23, 9, p. 1154-1160 7 p.

Research output: Contribution to journalArticle

  • Biallelic GALM pathogenic variants cause a novel type of galactosemia

    Wada, Y., Kikuchi, A., Arai-Ichinoi, N., Sakamoto, O., Takezawa, Y., Iwasawa, S., Niihori, T., Nyuzuki, H., Nakajima, Y., Ogawa, E., Ishige, M., Hirai, H., Sasai, H., Fujiki, R., Shirota, M., Funayama, R., Yamamoto, M., Ito, T., Ohara, O., Nakayama, K. & 4 others, Aoki, Y., Koshiba, S., Fukao, T. & Kure, S., 01-06-2019, In : Genetics in Medicine. 21, 6, p. 1286-1294 9 p.

    Research output: Contribution to journalArticle

  • 9 Citations (Scopus)

    Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

    Yokoi, K., Nakajima, Y., Shinkai, Y., Sano, Y., Imamura, M., Akiyama, T., Yoshikawa, T., Ito, T. & Kurahashi, H., 12-2019, In : Molecular Genetics and Metabolism Reports. 21, 100515.

    Research output: Contribution to journalArticle

    Open Access
  • Disruption of the responsible gene in a phosphoglucomutase 1 deficiency patient by homozygous chromosomal inversion

    Yokoi, K., Nakajima, Y., Ohye, T., Inagaki, H., Wada, Y., Fukuda, T., Sugie, H., Yuasa, I., Ito, T. & Kurahashi, H., 01-01-2019, JIMD Reports. Springer, p. 85-90 6 p. (JIMD Reports; vol. 43).

    Research output: Chapter in Book/Report/Conference proceedingChapter

  • 2 Citations (Scopus)

    Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: A case report

    Yokoi, K., Nakajima, Y., Inagaki, H., Tsutsumi, M., Ito, T. & Kurahashi, H., 12-12-2018, In : BMC Medical Genetics. 19, 1, 210.

    Research output: Contribution to journalArticle