日期 影响因子
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。

期刊:Biochemistry and Biophysics Reports
影响因子:2.2
doi:10.1016/j.bbrep.2026.102569
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
发表日期：2026
文献求助 收藏

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

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03848-4
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
神经科学
免疫/内分泌
发表日期：2025
文献求助 收藏

Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age

神经病变型黏多糖贮积症II型病例报告：早期脑室内酶替代疗法和造血干细胞移植，5岁前发育结果良好

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101254
Ikari, Azuma; Hama, Asahito; Okuyama, Torayuki
细胞生物学
发育与干细胞
神经科学
干细胞
发表日期：2025
文献求助 收藏

Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III

日本黏多糖贮积症III型患者的自然病程、临床症状和认知发育

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101267
Seo, Joo-Hyun; Sou, Wakana; Chinen, Yasutsugu; Okuyama, Torayuki
发育与干细胞
神经科学
发表日期：2025
文献求助 收藏

Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity

青少年/成人型半乳糖唾液酸缺乏症，伴有纯合子 CTSA 变异，无近亲结婚史

期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/s41439-025-00324-0
Toki, Machiko; Tsunoda, Kazushige; So, Tetsumin; Kosuga, Motomichi; Okuyama, Torayuki; Miharu, Masashi; Hasegawa, Tomonobu; Yamazawa, Kazuki
发表日期：2025
文献求助 收藏

Corrigendum to "Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II" [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 101021]

对“新型粘多糖贮积症 II 型小鼠模型中顶骨成骨细胞分化增强”的更正[分子遗传学和代谢报告，第 37 卷，2023 年 12 月，101021]

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2024.101098
Yamazaki, Narutoshi; Ohira, Mari; Takada, Shuji; Ohtake, Akira; Onodera, Masafumi; Nakanishi, Mahito; Okuyama, Torayuki; Mashima, Ryuichi
细胞生物学
代谢
发表日期：2024
文献求助 收藏

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation

一种新型粘多糖贮积症 II 型小鼠模型，具有艾杜糖醛酸-2-硫酸酯酶-P88L 突变

期刊:Scientific Reports
影响因子:3.8
doi:10.1038/s41598-023-34541-w
Ryuichi Mashima, Mari Ohira, Torayuki Okuyama, Masafumi Onodera, Shuji Takada
信号转导
Mouse
发表日期：2023
文献求助 收藏

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II

新型小鼠粘多糖贮积症 II 型模型中顶骨成骨细胞分化增强

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.8
doi:10.1016/j.ymgmr.2023.101021
Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima
细胞生物学
其它细胞
发表日期：2023
文献求助 收藏

Physiology and Pathophysiology of Heparan Sulfate in Animal Models: Its Biosynthesis and Degradation

动物模型中硫酸乙酰肝素的生理和病理生理：其生物合成和降解

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms23041963
Mashima, Ryuichi; Okuyama, Torayuki; Ohira, Mari
发表日期：2022
文献求助 收藏

Automated urinary sediment detection for Fabry disease using deep-learning algorithms

利用深度学习算法自动检测法布里病尿沉渣

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2022.100921
Uryu, Hidetaka; Migita, Ohsuke; Ozawa, Minami; Kamijo, Chikako; Aoto, Saki; Okamura, Kohji; Hasegawa, Fuyuki; Okuyama, Torayuki; Kosuga, Motomichi; Hata, Kenichiro
发表日期：2022
文献求助 收藏