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

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan

使用 C14:1/中链酰基肉碱比率代替 C14:1 来降低日本新生儿筛查中极长链酰基辅酶 A 脱氢酶缺乏症的假阳性结果

Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada

A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T

剪接转换寡核苷酸治疗可改善 G6PC c.648G>T 小鼠的 1a 型糖原累积病

Kentaro Ito, Go Tajima, Chikako Kamisato, Miyuki Tsumura, Mitsuhiro Iwamoto, Yukiko Sekiguchi, Yukinobu Numata, Kyoko Watanabe, Yoshiyuki Yabe, Satomi Kanki, Yusuke Fujieda, Koichi Goto, Yoshitaka Sogawa, Masataka Oitate, Hiroyuki Nagase, Shinnosuke Tsuji, Tomohiro Nishizawa, Masayo Kakuta, Takeshi

Newborn screening for Fabry disease in the western region of Japan

日本西部地区新生儿法布里病筛查

Takaaki Sawada, Jun Kido, Shinichiro Yoshida, Keishin Sugawara, Ken Momosaki, Takahito Inoue, Go Tajima, Hirotake Sawada, Shirou Mastumoto, Fumio Endo, Shinichi Hirose, Kimitoshi Nakamura