• 1070 Citations
  • 17 h-Index
1985 …2020

Research output per year

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Research Output

An early-onset neuronopathic form of acid sphingomyelinase deficiency: A SMPD1 p.C133Y mutation in the saposin domain of acid sphingomyelinase

Ota, S., Noguchi, A., Kondo, D., Nakajima, Y., Ito, T., Arai, H. & Takahashi, T., 01-01-2020, In : Tohoku Journal of Experimental Medicine. 250, 1, p. 5-11 7 p.

Research output: Contribution to journalArticle

Open Access
  • Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia (Genetics in Medicine, (2019), 21, 6, (1286-1294), 10.1038/s41436-018-0340-x)

    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., 01-01-2020, (Accepted/In press) In : Genetics in Medicine.

    Research output: Contribution to journalComment/debate

    Open Access
  • 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