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

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism

庞贝病中溶酶体糖原的积累会导致细胞质糖原代谢紊乱。

Canibano-Fraile, Rodrigo; Harlaar, Laurike; Dos Santos, Carlos A; Hoogeveen-Westerveld, Marianne; Demmers, Jeroen A A; Snijders, Tim; Lijnzaad, Philip; Verdijk, Robert M; van der Beek, Nadine A M E; van Doorn, Pieter A; van der Ploeg, Ans T; Brusse, Esther; Pijnappel, W W M Pim; Schaaf, Gerben J

MRI changes in diaphragmatic motion and curvature in Pompe disease over time

庞贝病患者膈肌运动和曲率随时间变化的MRI影像学表现

Harlaar, Laurike; Ciet, Pierluigi; van Tulder, Gijs; van Kooten, Harmke A; van der Beek, Nadine A M E; Brusse, Esther; de Bruijne, Marleen; Tiddens, Harm A W M; van der Ploeg, Ans T; van Doorn, Pieter A

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

胸部MRI可用于诊断庞贝病早期膈肌无力。

Harlaar, Laurike; Ciet, Pierluigi; van Tulder, Gijs; Pittaro, Alice; van Kooten, Harmke A; van der Beek, Nadine A M E; Brusse, Esther; Wielopolski, Piotr A; de Bruijne, Marleen; van der Ploeg, Ans T; Tiddens, Harm A W M; van Doorn, Pieter A

Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study

晚发型庞贝病患者的身体结局与患者报告结局呈正相关:一项横断面研究

Yuan, Meng; Andrinopoulou, Eleni-Rosalina; Kruijshaar, Michelle E; Lika, Aglina; Harlaar, Laurike; van der Ploeg, Ans T; Rizopoulos, Dimitris; van der Beek, Nadine A M E

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

庞贝病成人患者接受酶疗法10年期间疗效差异很大

Harlaar, Laurike; Hogrel, Jean-Yves; Perniconi, Barbara; Kruijshaar, Michelle E; Rizopoulos, Dimitris; Taouagh, Nadjib; Canal, Aurélie; Brusse, Esther; van Doorn, Pieter A; van der Ploeg, Ans T; Laforêt, Pascal; van der Beek, Nadine A M E

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy

对17例接受酶替代疗法治疗的儿童庞贝病患者进行长期随访

van der Meijden, Jan C; Kruijshaar, Michelle E; Harlaar, Laurike; Rizopoulos, Dimitris; van der Beek, Nadine A M E; van der Ploeg, Ans T