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

Fragmented QRS in Lateral Leads on Electrocardiography Is Associated with Cardiac Dysfunction and Left Ventricular Dilation in Duchenne Muscular Dystrophy

心电图侧壁导联QRS波碎裂与杜氏肌营养不良症患者的心脏功能障碍和左心室扩张相关

Yamamoto, Tetsushi; Ogawa, Shuichiro; Ide, Yusuke; Miyazaki, Kokoro; Sunami, Aiko; Nambu, Yoshinori; Bo, Ryosuke; Matsuo, Masafumi; Awano, Hiroyuki

A noncontact vital sign sensor demonstrating a strong correlation with an electrocardiogram electrode and a CO(2) sensor

一种非接触式生命体征传感器,与心电图电极和二氧化碳传感器均表现出很强的相关性。

Nagano, Tatsuya; Yamamoto, Nobuyuki; Shinomiya, Sae; Kato, Hiroshi; Okamoto, Mariko; Hazama, Daisuke; Bo, Ryosuke; Yamamura, Tomohiko; Imai, Takumi; Fukuzawa, Koji; Funayama, Takuya; Kano, Koji; Katsurada, Naoko

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy

日本新生儿溶酶体贮积症和肾上腺脑白质营养不良筛查经验

Onuki, Takanori; Tajika, Makiko; Sugiyama, Yohei; Shimura, Masaru; Ichimoto, Keiko; Tanaka, Toju; Nyuzuki, Hiromi; Kosuga, Motomichi; Migita, Ohsuke; Ito, Tetsuya; Sasai, Hideo; Bo, Ryosuke; Hamada, Junpei; Hamazaki, Takashi; Sakai, Norio; Inoue, Takahito; Nakamura, Kimitoshi; Okuyama, Torayuki; Murayama, Kei

Total Intramuscular Fat Fraction of Thigh Muscles as a Predictor of Nusinersen Efficacy in Pediatric SMA Type II and III

大腿肌肉总肌内脂肪分数作为预测纽西纳生治疗儿童脊髓性肌萎缩症II型和III型疗效的指标

Iketani, Kiiko; Awano, Hiroyuki; Hashimura, Hiromi; Sonehara, Shoko; Hanafusa, Hiroaki; Nambu, Yoshinori; Nishio, Hisahide; Nozu, Kandai; Bo, Ryosuke

The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3

尿肌联蛋白的N端片段并非钙蛋白酶3降解的产物

Nambu, Yoshinori; Matsumura, Tsuyoshi; Machida, Kyoka; Tsutsumi, Rie; Hata, Shoji; Shinkai-Ouchi, Fumiko; Ono, Yasuko; Osawa, Kayo; Shirakawa, Taku; Bo, Ryosuke; Nishio, Hisahide; Sakaue, Hiroshi; Awano, Hiroyuki; Matsuo, Masafumi

Serum titin/creatinine ratio as a biomarker for discriminating disease severity in Duchenne and Becker muscular dystrophies

血清肌联蛋白/肌酐比值作为区分杜氏肌营养不良症和贝克尔肌营养不良症疾病严重程度的生物标志物

Nambu, Yoshinori; Osawa, Kayo; Shirakawa, Taku; Sunami, Aiko; Sonehara, Shoko; Bo, Ryosuke; Nozu, Kandai; Matsuo, Masafumi; Awano, Hiroyuki

Incidence of Homozygous SMN2 Deletion in Japan: Cross-Reactivity of SMN2 Primers with SMN1 Sequence Causes False Negatives in Real-Time PCR Screening.

日本纯合SMN2缺失的发生率:SMN2引物与SMN1序列的交叉反应导致实时PCR筛查出现假阴性

Sakima Makoto, Bouike Yoshihiro, Wada Shin-Ichi, Nakamae Masami, Noguchi Yoriko, Bo Ryosuke, Awano Hiroyuki, Oba Jumpei, Nishio Hisahide

Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial

福山型先天性肌营养不良症患者类固醇治疗的非随机分配:II期临床试验研究方案

Murakami, Terumi; Sato, Takatoshi; Ishizuka, Takami; Nakamura, Harumasa; Tachimori, Hisateru; Harada, Hiroko; Oi, Hideki; Hatano, Kenji; Oba, Mari S; Ishiguro, Kumiko; Shichiji, Minobu; Kihara, Yuki; Takeshima, Yasuhiro; Taniguchi-Ikeda, Mariko; Hattori, Ayako; Shimizu-Motohashi, Yuko; Awano, Hiroyuki; Bo, Ryosuke; Nagata, Satoru; Ishigaki, Keiko

Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan

日本儿科门诊转诊患者中SARS-CoV-2感染的流行病学:一项横断面研究

Hong, Sungwon; Iketani, Kiiko; Sonehara, Shoko; Hanafusa, Hiroaki; Nambu, Yoshinori; Nozu, Kandai; Awano, Hiroyuki; Bo, Ryosuke