• 1009 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
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

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
6 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

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., 01-12-2019, : : Molecular Genetics and Metabolism Reports. 21, 100515.

研究成果: Article

公開
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., 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