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

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers

血清C14:1/C12:1比值是区分极长链酰基辅酶A脱氢酶缺乏症患者和杂合子携带者的有用标志物。

Yamada, Kenji; Osawa, Yoshimitsu; Kobayashi, Hironori; Hasegawa, Yuki; Fukuda, Seiji; Yamaguchi, Seiji; Taketani, Takeshi

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby

患有肌病性极长链酰基辅酶A脱氢酶缺乏症的患者在妊娠期间的临床病程,以及其所生婴儿的病情进展。

Yamada, Kenji; Matsubara, Keiichi; Matsubara, Yuko; Watanabe, Asami; Kawakami, Sanae; Ochi, Fumihiro; Kuwabara, Kozue; Mushimoto, Yuichi; Kobayashi, Hironori; Hasegawa, Yuki; Fukuda, Seiji; Yamaguchi, Seiji; Taketani, Takeshi

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

A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth

一名新生儿患有肉碱棕榈酰转移酶 II 缺乏症,但出生后不久进行的酰基肉碱分析最初判断其未受影响。

Yamada, Kenji; Bo, Ryosuke; Kobayashi, Hironori; Hasegawa, Yuki; Ago, Mako; Fukuda, Seiji; Yamaguchi, Seiji; Taketani, Takeshi

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

A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

患有线粒体三功能蛋白缺乏症的胎儿:羊水中3-羟基酰基肉碱水平升高,功能性地证实了基因诊断。

Bo, Ryosuke; Hasegawa, Yuki; Yamada, Kenji; Kobayashi, Hironori; Taketani, Takeshi; Fukuda, Seiji; Yamaguchi, Seiji

Acute Myositis Associated with Concurrent Infection of Rotavirus and Norovirus in a 2-Year-Old Girl

一名2岁女童同时感染轮状病毒和诺如病毒并发急性肌炎

Yamamoto, Kei; Fukuda, Seiji; Mushimoto, Yuichi; Minami, Noriaki; Kanai, Rie; Tsukamoto, Kazuki; Yamaguchi, Seiji

Role of a Conserved Tryptophan in the Binding of the Sex Determination Transcription Factor SRY♦: Structure-Function Relationships in Human Testis-determining Factor SRY. An Aromatic Buttress Underlies the Specific DNA-bending Surface of a High Mobility Group (HMG) Box

保守色氨酸在性别决定转录因子SRY结合中的作用♦:人类睾丸决定因子SRY的结构-功能关系。芳香族支撑结构是高迁移率族(HMG)盒特异性DNA弯曲表面的基础。

Onishi, Chie; Mori-Kimachi, Satomi; Hirade, Tomohiro; Abe, Mariko; Taketani, Takeshi; Suzumiya, Junji; Sugimoto, Toshitsugu; Yamaguchi, Seiji; Kapur, Reuben; Fukuda, Seiji

Internal tandem duplication mutations in FLT3 gene augment chemotaxis to Cxcl12 protein by blocking the down-regulation of the Rho-associated kinase via the Cxcl12/Cxcr4 signaling axis.

FLT3 基因内部串联重复突变通过 Cxcl12/Cxcr4 信号轴阻断 Rho 相关激酶的下调,从而增强对 Cxcl12 蛋白的趋化性

Onishi Chie, Mori-Kimachi Satomi, Hirade Tomohiro, Abe Mariko, Taketani Takeshi, Suzumiya Junji, Sugimoto Toshitsugu, Yamaguchi Seiji, Kapur Reuben, Fukuda Seiji

Localized type 1 autoimmune pancreatitis superimposed upon preexisting intraductal papillary mucinous neoplasms

局限性1型自身免疫性胰腺炎叠加于已存在的导管内乳头状黏液性肿瘤之上

Urata, Takahiro; Naito, Yoshiki; Izumi, Yoshihiro; Takekuma, Yoshi; Yokomizo, Hiroshi; Nagamine, Michiko; Fukuda, Seiji; Notohara, Kenji; Hifumi, Michio