• 982 引用
  • 16 h指数
1985 …2019
Pureに変更を加えた場合、すぐここに表示されます。

Fingerprint Tetsuya Itoが取り組む研究トピックをご確認ください。これらのトピックラベルは、この人物の研究に基づいています。これらを共に使用することで、固有の認識が可能になります。

Tandem Mass Spectrometry Medicine & Life Sciences
Carnitine Medicine & Life Sciences
Mutation 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

ネットワーク 最近の共同研究。丸をクリックして詳細を確認しましょう。

研究成果 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, : : Clinical and Experimental Nephrology. 23, 9, p. 1154-1160 7 p.

研究成果: Article

Nephrotic Syndrome
Steroids
Body Weight
Immunosuppressive Agents
bredinin
3 引用 (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. および4人, Aoki, Y., Koshiba, S., Fukao, T. & Kure, S., 01-06-2019, : : Genetics in Medicine. 21, 6, p. 1286-1294 9 p.

研究成果: Article

Galactosemias
Galactose
Exome
Protein Stability
Enzyme Assays

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

Yokoi, K., Nakajima, Y., Oe, 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; 巻数 43).

研究成果: Chapter

Phosphoglucomutase
Genes
Mutation
Congenital Disorders of Glycosylation
Glycogen Storage Disease
Ornithine Carbamoyltransferase Deficiency Disease
Gene Duplication
Exons
Mutation
Genes
Methylmalonyl-CoA Decarboxylase
Propionic Acidemia
High performance liquid chromatography
Tandem Mass Spectrometry
Mass spectrometry