Fingerprint Dive into the research topics where Pediatrics is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.

  • Network Recent external collaboration on country level. Dive into details by clicking on the dots.

    Profiles

    No photo of Hiroko Boda

    Boda Hiroko

    Person: Academic

    20092019
    No photo of Masayuki Fujino
    20112020
    No photo of Yohei Ikezumi

    Ikezumi Yohei

    Person: Academic

    20002020

    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., 2020, In : Tohoku Journal of Experimental Medicine. 250, 1, p. 5-11 7 p.

    Research output: Contribution to journalArticle

    Open Access
  • A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome

    Kishita, Y., Shimura, M., Kohda, M., Akita, M., Imai-Okazaki, A., Yatsuka, Y., Nakajima, Y., Ito, T., Ohtake, A., Murayama, K. & Okazaki, Y., 2020, (Accepted/In press) In : Molecular genetics & genomic medicine.

    Research output: Contribution to journalArticle

    Open Access
  • Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome

    Niitsuma, S., Kudo, H., Kikuchi, A., Hayashi, T., Kumakura, S., Kobayashi, S., Okuyama, Y., Kumagai, N., Niihori, T., Aoki, Y., So, T., Funayama, R., Nakayama, K., Shirota, M., Kondo, S., Kagami, S., Tsukaguchi, H., Iijima, K., Kure, S. & Ishii, N., 01-04-2020, In : International Immunology. 32, 4, p. 283-292 10 p.

    Research output: Contribution to journalArticle