• 1087 引用
  • 17 h指数
1985 …2020

年単位の研究成果

Pureに変更を加えた場合、すぐここに表示されます。

研究成果

フィルター
Comment/debate
2020

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. および4人, Aoki, Y., Koshiba, S., Fukao, T. & Kure, S., 01-07-2020, : : Genetics in Medicine. 22, 7, p. 1281 1 p.

研究成果: Comment/debate

公開
2014

Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation (J Inherit Metab Dis, DOI 10.1007/s10545-014-9682-y)

Nakajima, Y., Meijer, J., Dobritzsch, D., Ito, T., Meinsma, R., Abeling, N. G. G. M., Roelofsen, J., Zoetekouw, L., Watanabe, Y., Tashiro, K., Lee, T., Takeshima, Y., Mitsubuchi, H., Yoneyama, A., Ohta, K., Eto, K., Saito, K., Kuhara, T. & van Kuilenburg, A. B. P., 23-10-2014, : : Journal of Inherited Metabolic Disease. 37, 6, p. 1023 1 p.

研究成果: Comment/debate