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

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses

对干血斑中糖胺聚糖进行定量分析,并评估其作为新生儿粘多糖贮积症二级筛查试验的有效性。

Oboshi, Wataru; Hirakiyama, Asami; Miura, Masahiro; Omachi, Hikaru; Tanaka, Misa; Seo, Joo-Hyun; Ohtake, Akira; Osawa, Yoshimitsu; Ishige, Mika; Kosuga, Motomichi; Munenaga, Takeshi; Migita, Ohsuke; Nyuzuki, Hiromi; Sasai, Hideo; Fukuda, Tokiko; Sano, Shinichiro; Ito, Tetsuya; Bo, Ryosuke; Takeshima, Yasuhiro; Esaki, Hiroyuki; Inoue, Takahito; Nagamitsu, Shinichiro; Watanabe, Yoriko; Nakamura, Kimitoshi; Sawada, Hirotake; Maruyama, Shinsuke; Murayama, Kei; Okuyama, Torayuki

Characteristic Findings of Infants with Transient Elevation of Acylcarnitines in Neonatal Screening and Neonatal Weight Loss

新生儿筛查中酰基肉碱短暂升高婴儿的特征性发现及新生儿体重减轻

Morishima, Sakura; Shimada, Yumi; Watanabe, Yoriko; Ihara, Kenji

Comprehensive genetic profiling using tissue and blood in locally advanced tumors.

利用组织和血液对局部晚期肿瘤进行全面的基因分析

Fujiyoshi Kenji, Sugihara Rie, Miyamoto Naoki, Watanabe Yoriko, Sudo Tomoya, Numata Sanae, Akiba Jun, Abe Hideyuki, Ichinose Yuka, Inoue Kenji, Ozono Shuichi, Ono Takeharu, Orioka Kentaro, Kashihara Masaki, Kajiwara Ryousuke, Kawano Hiroyuki, Kawahara Akihiko, Takase Ryuta, Toh Uhi, Hashimoto Kazuaki, Hisaka Toru, Hirai Shingo, Mitsuoka Masahiro, Miyazaki Daiki, Yoshitomi Fumi, Yamamoto Ken, Umeno Hirohito, Nomura Masahisa, Naito Yoshiki

Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis

利用生物标志物分析评估新生儿法布里病筛查中检测到的GLA变异体

Sawada, Takaaki; Kido, Jun; Tsukimura, Takahiro; Sugawara, Keishin; Shiga, Tomoko; Saito, Seiji; Togawa, Tadayasu; Inoue, Takahito; Watanabe, Yoriko; Hamada, Junpei; Sakuraba, Hitoshi; Nakamura, Kimitoshi

Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease

更正:TMEM260 的 c.1617del 变异被确定为日本特定类型先天性心脏病患者中最常见的单基因决定因素。

Inoue, Tadashi; Takase, Ryuta; Uchida, Keiko; Kodo, Kazuki; Suda, Kenji; Watanabe, Yoriko; Yoshiura, Koh-Ichiro; Kunimatsu, Masaya; Ishizaki, Reina; Azuma, Kenko; Inai, Kei; Muneuchi, Jun; Furutani, Yoshiyuki; Akagawa, Hiroyuki; Yamagishi, Hiroyuki

The Feeder Effects of Cultured Rice Cells on the Early Development of Rice Zygotes

培养水稻细胞对水稻合子早期发育的喂养效应

Watanabe, Yoriko; Nobe, Yuko; Taoka, Masato; Okamoto, Takashi

Food Preferences of Patients with Citrin Deficiency

瓜氨酸缺乏症患者的食物偏好

Okamoto, Miki; Okano, Yoshiyuki; Okano, Mai; Yazaki, Masahide; Inui, Ayano; Ohura, Toshihiro; Murayama, Kei; Watanabe, Yoriko; Tokuhara, Daisuke; Takeshima, Yasuhiro

Case Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED

病例报告:利妥昔单抗改善了患有West综合征和抗NMDAR脑炎(伴APECED)的婴儿的癫痫痉挛和脑电图异常。

Kawano, Go; Yokochi, Takaoki; Nishikomori, Ryuta; Watanabe, Yoriko; Ohbu, Keizo; Takahashi, Yukitoshi; Shintaku, Haruo; Matsuishi, Toyojiro

Ultra-widefield and anterior-segment optical coherence tomography in Alagille syndrome

阿拉吉尔综合征的超广角和前节光学相干断层扫描

Kato, Nobuhiro; Haruta, Masatoshi; Takase, Ryuta; Watanabe, Yoriko; Yoshida, Shigeo

Late-onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults

迟发性鸟氨酸转氨甲酰酶缺乏症:成人反复出现异常行为的罕见病因

Hidaka, Masaoki; Higashi, Eiji; Uwatoko, Takeshi; Uwatoko, Kiku; Urashima, Mayumi; Takashima, Hiroshi; Watanabe, Yoriko; Kitazono, Takanari; Sugimori, Hiroshi