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

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

CDKL5 缺乏症的基线特征和临床结局指标的可行性:CANDID 观察性研究

Liogier d'Ardhuy, Xavier; Cimms, Tricia; Lindsten, Kristina; Rizzo, Marco; Skrinar, Alison; St Wecker, Peter; Mingorance, Ana; Devinsky, Orrin

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

对患有 X 连锁肌酸转运蛋白缺乏症的男性进行纵向特征分析:一项多年观察性研究的最终结果

Miller, Judith S; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A; Becker, Lindsey; Bennett, Amanda E; Berry, Leandra N; Berry-Kravis, Elizabeth M; Bruchey, Aleksandra; Byars, Anna W; Cimms, Tricia; Cecil, Kim M; Covello, Maxine; Cubit, Laura S; Das, Tanvi; Davis, Robert J; Drye, Madison; Ficicioglu, Can; Fulton, John B; Goin-Kochel, Robin P; Guthrie, Whitney; Hallinan, Barbara E; Hannah-Shmouni, Fady; Gustafson, Kathryn E; Koeberl, Dwight D; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A; Stone, Caitlin; Sullivan, Nancy R; Sutton, V Reid; Thomas, Rebecca P; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey

Qualitative evaluation of the symptoms and quality of life impacts of long-chain fatty acid oxidation disorders

长链脂肪酸氧化障碍的症状及其对生活质量影响的定性评估

Williams-Hall, Rebecca; Tinsley, Katie; Kruger, Eliza; Johnson, Chloe; Bowden, Alexandra; Cimms, Tricia; Gater, Adam

Reply to: Burosumab for Tumor-Induced Osteomalacia: not Enough of a Good Thing

回复:布罗索单抗治疗肿瘤性骨软化症:利大于弊

Jan de Beur, Suzanne M; Miller, Paul D; Weber, Thomas J; Peacock, Munro; Insogna, Karl; Kumar, Rajiv; Rauch, Frank; Luca, Diana; Cimms, Tricia; Roberts, Mary Scott; Martin, Javier San; Carpenter, Thomas O

Burosumab for the Treatment of Tumor-Induced Osteomalacia

布罗索单抗治疗肿瘤引起的骨软化症

Jan de Beur, Suzanne M; Miller, Paul D; Weber, Thomas J; Peacock, Munro; Insogna, Karl; Kumar, Rajiv; Rauch, Frank; Luca, Diana; Cimms, Tricia; Roberts, Mary Scott; San Martin, Javier; Carpenter, Thomas O

Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population

个体热图评估显示了维司曲尼酶α治疗在高度异质性的VII型粘多糖贮积症研究人群中的疗效

Haller, Christine; Song, Wenjie; Cimms, Tricia; Chen, Chao-Yin; Whitley, Chester B; Wang, Raymond Y; Bauer, Mislen; Harmatz, Paul

Content validity and ePRO usability of the BPI-sf and "worst pain" item with pleural and peritoneal mesothelioma

BPI-sf量表及其“最剧烈疼痛”条目在胸膜和腹膜间皮瘤患者中的内容效度和电子患者报告结局(ePRO)可用性

Gelhorn, Heather L; Eremenco, Sonya; Skalicky, Anne M; Balantac, Zaneta; Cimms, Tricia; Halling, Katarina; Sexton, Chris