• 1020 Citations
  • 16 h-Index
1985 …2019
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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.

Tandem Mass Spectrometry Medicine & Life Sciences
Mutation Medicine & Life Sciences
Carnitine Medicine & Life Sciences
Mass spectrometry Chemical Compounds
Serum Medicine & Life Sciences
dihydropyrimidinase Chemical Compounds
Liver Transplantation Medicine & Life Sciences
Ornithine Carbamoyltransferase Deficiency Disease Medicine & Life Sciences

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

Research Output 1985 2019

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

Nephrotic Syndrome
Steroids
Body Weight
Immunosuppressive Agents
bredinin
8 Citations (Scopus)

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

Galactosemias
Galactose
Exome
Protein Stability
Enzyme Assays

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
Hypophosphatasia
Mutation
Asthma
Alkaline Phosphatase
Tooth

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

Phosphoglucomutase
Genes
Mutation
Congenital Disorders of Glycosylation
Glycogen Storage Disease
Ornithine Carbamoyltransferase Deficiency Disease
Gene Duplication
Exons
Mutation
Genes