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

New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) Deficiency

烯酰辅酶A水合酶短链1 (ECHS1) 缺乏症的新神经影像学发现

Tada, Hiroko; Ichimoto, Keiko; Murayama, Kei; Goto, Tomohide; Takanashi, Jun-Ichi

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

基因组测序能够提供高诊断率,并为智力障碍和发育迟缓的病因学研究提供新的见解。

Hamanaka, Kohei; Fujita, Atsushi; Miyatake, Satoko; Misawa, Kazuharu; Koshimizu, Eriko; Uchiyama, Yuri; Tsuchida, Naomi; Seyama, Rie; Sakamoto, Masamune; Iwama, Kazuhiro; Nishimura, Naoto; Utsuno, Yasuhiro; Fu, Li; Takizawa, Marina; Liang, Qiaowei; Itai, Toshiyuki; Saida, Ken; Ohori, Sachiko; Kameyama, Shinichi; Fukuda, Hiromi; Hayashi, Yukina; Inoue, Yuta; Goto, Tomohide; Ichikawa, Kazushi; Kuki, Ichiro; Fukuoka, Masataka; Kim, Kiyohiro; Shiohama, Tadashi; Shimoda, Konomi; Otsuka, Kosuke; Ueda, Yuki; Cho, Kazutoshi; Yuge, Kotaro; Tachi, Nobutada; Yoshida, Masaki; Daida, Atsuro; Hirasawa, Kyoko; Yanagishita, Tomoe; Yamamoto, Toshiyuki; Shirai, Kentaro; Mehr, Tammar Fixler; Fattal-Valevski, Aviva; Lev, Dorit; Yokoyama, Haruna; Iwabuchi, Emi; Saito, Yoshihiko; Miura, Masaki; Sugai, Kenji; Ishiyama, Akihiko; Sasaki, Masayuki; Watanabe, Yoshihiro; Takanashi, Jun-Ichi; Kim, Chong Ae; Yokochi, Kenji; Tohyama, Jun; Mori, Tatsuo; Izumi, Yuishin; Hasegawa, Yuiko; Okamoto, Nobuhiko; Ikeda, Takahiro; Osaka, Hitoshi; Kawai, Yosuke; Omae, Yosuke; Tokunaga, Katsushi; Kato, Mitsuhiro; Mizuguchi, Takeshi; Matsumoto, Naomichi

Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductase

开发一种基于液相色谱-串联质谱法的新型5,10-亚甲基四氢叶酸还原酶酶活性测定方法

Sunoki, Kohei; Watanabe, Miyuki; Aoki, Shiho; Jimbo, Eriko; Shimbo, Hiroko; Goto, Tomohide; Osaka, Hitoshi

A case of acute promyelocytic leukemia complicated by mitochondrial disease

一例急性早幼粒细胞白血病合并线粒体疾病的病例报告

Sakurai, Yukari; Yanagimachi, Masakatsu; Ito, Mieko; Hirose, Ayana; Miyagawa, Naoyuki; Keino, Dai; Yokosuka, Tomoko; Iwasaki, Fuminori; Hamanoue, Satoshi; Shiomi, Masae; Goto, Shoko; Goto, Tomohide; Goto, Hiroaki

B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.

与多核苷酸激酶 3'-磷酸酶 (PNKP) 缺乏相关的 B 细胞免疫缺陷

Takada Sanami, Okano Tsubasa, Tanita Kay, Tsukada Kaima, Watanabe Masato, Hijikata Atsushi, Naruto Takuya, Yeh Tzu-Wen, Kasuga Saki, Tokimasa Sadao, Taniguchi-Ikeda Mariko, Ogata Reina, Ikeda Azusa, Goto Tomohide, Osaka Hitoshi, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro, van der Burg Mirjam, Shimada Mikio, Kanegane Hirokazu

Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan

儿童期发病遗传性痉挛性截瘫的遗传和临床特征:日本单中心研究

Ikeda, Azusa; Kumaki, Tatsuro; Tsuyusaki, Yu; Tsuji, Megumi; Enomoto, Yumi; Fujita, Atsushi; Saitsu, Hirotomo; Matsumoto, Naomichi; Kurosawa, Kenji; Goto, Tomohide

Retrospective Echocardiographic Analysis of West Syndrome During Adrenocorticotropic Hormone Therapy

回顾性超声心动图分析促肾上腺皮质激素治疗期间韦斯特综合征

Ikuta, Yoji; Miura, Masaru; Goto, Tomohide; Miyama, Sahoko

Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes

描述由KAT6B错义变异引起的表型,该表型与Say-Barber-Biesecker-Young-Simpson综合征和生殖髌骨综合征不同

Nishimura, Naoto; Enomoto, Yumi; Kumaki, Tatsuro; Murakami, Hiroaki; Ikeda, Azusa; Goto, Tomohide; Kurosawa, Kenji

Efficacy of long-term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series

长期促肾上腺皮质激素治疗韦斯特综合征的疗效:一项回顾性多中心病例系列研究

Baba, Shimpei; Okanishi, Tohru; Homma, Yoichiro; Yoshida, Takeshi; Goto, Tomohide; Fukasawa, Tatsuya; Kobayashi, Satoru; Kamei, Atsushi; Fujii, Yuji; Hino-Fukuyo, Naomi; Yamada, Keitaro; Daida, Atsuro; Kawawaki, Hisashi; Hoshino, Hideki; Sejima, Hitoshi; Ishida, Yusuke; Okazaki, Tetsuya; Inui, Takehiko; Kanai, Sotaro; Motoi, Hirotaka; Itamura, Shinji; Nishimura, Mitsuyo; Enoki, Hideo; Fujimoto, Ayataka

Nonsense variants of STAG2 result in distinct congenital anomalies

STAG2基因的无义突变会导致不同的先天性异常。

Aoi, Hiromi; Lei, Ming; Mizuguchi, Takeshi; Nishioka, Nobuko; Goto, Tomohide; Miyama, Sahoko; Suzuki, Toshifumi; Iwama, Kazuhiro; Uchiyama, Yuri; Mitsuhashi, Satomi; Itakura, Atsuo; Takeda, Satoru; Matsumoto, Naomichi