日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

利用干血斑测定SMN1拷贝数评估脊髓性肌萎缩症携带者状态

Wijaya, Yogik Onky Silvana; Purevsuren, Jamiyan; Harahap, Nur Imma Fatimah; Niba, Emma Tabe Eko; Bouike, Yoshihiro; Nurputra, Dian Kesumapramudya; Rochmah, Mawaddah Ar; Thursina, Cempaka; Hapsara, Sunartini; Yamaguchi, Seiji; Nishio, Hisahide; Shinohara, Masakazu

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

亚洲国家有机酸血症、脂肪酸氧化障碍和氨基酸代谢紊乱的发病率和谱系存在差异:选择性筛查与扩大新生儿筛查

Shibata, Naoaki; Hasegawa, Yuki; Yamada, Kenji; Kobayashi, Hironori; Purevsuren, Jamiyan; Yang, Yanling; Dung, Vu Chi; Khanh, Nguyen Ngoc; Verma, Ishwar C; Bijarnia-Mahay, Sunita; Lee, Dong Hwan; Niu, Dau-Ming; Hoffmann, Georg F; Shigematsu, Yosuke; Fukao, Toshiyuki; Fukuda, Seiji; Taketani, Takeshi; Yamaguchi, Seiji

Internal Tandem Duplication in FLT3 Attenuates Proliferation and Regulates Resistance to the FLT3 Inhibitor AC220 by Modulating p21Cdkn1a and Pbx1 in Hematopoietic Cells.

FLT3 内部串联重复通过调节造血细胞中的 p21Cdkn1a 和 Pbx1 来减弱增殖并调节对 FLT3 抑制剂 AC220 的耐药性

Abe Mariko, Pelus Louis M, Singh Pratibha, Hirade Tomohiro, Onishi Chie, Purevsuren Jamiyan, Taketani Takeshi, Yamaguchi Seiji, Fukuda Seiji

The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism

蒙古首例苯丙酮尿症病例,该病例是在先天性代谢缺陷选择性筛查中发现的。

Purevsuren, Jamiyan; Bolormaa, Baasandai; Narantsetseg, Chogdon; Batsolongo, Renchindorj; Enkhchimeg, Ochirbat; Bayalag, Munkhuu; Hasegawa, Yuki; Shintaku, Haruo; SeijiYamaguchi