• 188 Citations
  • 8 h-Index
20072020

Research output per year

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

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Research Output

  • 188 Citations
  • 8 h-Index
  • 30 Article
  • 2 Comment/debate
  • 1 Chapter
  • 1 Letter

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., 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., 01-07-2020, In : Genetics in Medicine. 22, 7, p. 1281 1 p.

    Research output: Contribution to journalComment/debate

    Open Access
  • HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout

    Mishima, E., Mori, T., Nakajima, Y., Toyohara, T., Kikuchi, K., Oikawa, Y., Matsuhashi, T., Maeda, Y., Suzuki, T., Kudo, M., Ito, S., Sohara, E., Uchida, S. & Abe, T., 01-08-2020, In : CEN case reports. 9, 3, p. 210-214 5 p.

    Research output: Contribution to journalArticle

  • 1 Citation (Scopus)

    Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer

    Yokoi, K., Nakajima, Y., Matsuoka, H., Shinkai, Y., Ishihara, T., Maeda, Y., Kato, T., Katsuno, H., Masumori, K., Kawada, K., Yoshikawa, T., Ito, T. & Kurahashi, H., 2020, (Accepted/In press) In : Cancer science.

    Research output: Contribution to journalArticle

    Open Access
  • A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

    Tsuchiya, H., Akiyama, T., Kuhara, T., Nakajima, Y., Ohse, M., Kurahashi, H., Kato, T., Maeda, Y., Yoshinaga, H. & Kobayashi, K., 03-2019, In : Brain and Development. 41, 3, p. 280-284 5 p.

    Research output: Contribution to journalArticle

  • 1 Citation (Scopus)