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

Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study

高剂量阿糖苷酶α对经典婴儿型庞贝病患者无创生存率和运动功能预后的影响:一项开放标签单中心研究

van Gelder, C M; Poelman, E; Plug, I; Hoogeveen-Westerveld, M; van der Beek, N A M E; Reuser, A J J; van der Ploeg, A T

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

儿童庞贝病:31例患者的临床表现和基因型

van Capelle, C I; van der Meijden, J C; van den Hout, J M P; Jaeken, J; Baethmann, M; Voit, T; Kroos, M A; Derks, T G J; Rubio-Gozalbo, M E; Willemsen, M A; Lachmann, R H; Mengel, E; Michelakakis, H; de Jongste, J C; Reuser, A J J; van der Ploeg, A T

Newborn screening for hunter disease: a small-scale feasibility study.

新生儿猎人病筛查:小规模可行性研究

Ruijter G J G, Goudriaan D A, Boer A M, Van den Bosch J, Van der Ploeg A T, Elvers L H, Weinreich S S, Reuser A J

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy

面部肌肉无力、言语障碍和吞咽困难是接受酶疗法治疗的经典婴儿型庞贝病患者常见的症状。

van Gelder, C M; van Capelle, C I; Ebbink, B J; Moor-van Nugteren, I; van den Hout, J M P; Hakkesteegt, M M; van Doorn, P A; de Coo, I F M; Reuser, A J J; de Gier, H H W; van der Ploeg, A T

The African origin of the common mutation in African American patients with glycogen-storage disease type II

非洲裔美国人糖原贮积症 II 型患者常见突变的非洲起源

Becker, J A; Vlach, J; Raben, N; Nagaraju, K; Adams, E M; Hermans, M M; Reuser, A J; Brooks, S S; Tifft, C J; Hirschhorn, R; Huie, M L; Nicolino, M; Plotz, P H

Lysosomal alpha-glucosidase: cell-specific processing and altered maturation in HT-29 colon cancer cells

溶酶体α-葡萄糖苷酶:HT-29结肠癌细胞中的细胞特异性加工和成熟改变

Francí, C; Egea, G; Arribas, R; Reuser, A J; Real, F X

Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites

人溶酶体α-葡萄糖苷酶:糖基化位点的功能表征

Hermans, M M; Wisselaar, H A; Kroos, M A; Oostra, B A; Reuser, A J

Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice

静脉注射磷酸化酸性α-葡萄糖苷酶可导致小鼠心脏和骨骼肌吸收该酶。

Van der Ploeg, A T; Kroos, M A; Willemsen, R; Brons, N H; Reuser, A J

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts

II型糖原贮积症的临床多样性。突变成纤维细胞中酸性α-葡萄糖苷酶的生物合成和原位定位

Reuser, A J; Kroos, M; Willemsen, R; Swallow, D; Tager, J M; Galjaard, H

Introduction of a viral thymidine kinase gene and the human beta-globin gene into developmentally multipotential mouse teratocarcinoma cells

将病毒胸苷激酶基因和人β-珠蛋白基因导入发育多能性小鼠畸胎瘤细胞

Pellicer, A; Wagner, E F; el-Kareh, A; Dewey, M J; Reuser, A J; Silverstein, S; Axel, R; Mintz, B