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

Correction to: Sharing is caring: a call for a new era of rare disease research and development

更正:分享即关爱:呼吁开启罕见病研究与开发的新时代

Denton, Nathan; Mulberg, Andrew E; Molloy, Monique; Charleston, Samantha; Fajgenbaum, David C; Marsh, Eric D; Howard, Paul

Sharing is caring: a call for a new era of rare disease research and development

分享即关爱:呼吁开启罕见病研究与开发的新时代

Denton, Nathan; Mulberg, Andrew E; Molloy, Monique; Charleston, Samantha; Fajgenbaum, David C; Marsh, Eric D; Howard, Paul

Coefficient of Fat Absorption to Measure the Efficacy of Pancreatic Enzyme Replacement Therapy in People With Cystic Fibrosis: Gold Standard or Coal Standard?

脂肪吸收系数在衡量胰酶替代疗法治疗囊性纤维化患者疗效中的应用:金标准还是次要标准?

Borowitz, Drucy; Aronoff, Nell; Cummings, Linda C; Maqbool, Asim; Mulberg, Andrew E

Data silos are undermining drug development and failing rare disease patients

数据孤岛正在阻碍药物研发,并使罕见病患者蒙受损失。

Denton, Nathan; Molloy, Monique; Charleston, Samantha; Lipset, Craig; Hirsch, Jonathan; Mulberg, Andrew E; Howard, Paul; Marsh, Eric D

FABry Disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI): A new Fabry disease-specific gastrointestinal outcomes instrument

法布里病患者报告结局-胃肠道(FABPRO-GI):一种新的法布里病特异性胃肠道结局评估工具

Shields, Alan L; Lamoureux, Roger E; Taylor, Fiona; Barth, Jay A; Mulberg, Andrew E; Kessler, Vivian; Skuban, Nina

Pediatric Inflammatory Bowel Disease Clinical Innovations Meeting of the Crohn's & Colitis Foundation: Charting the Future of Pediatric IBD

克罗恩病和结肠炎基金会儿科炎症性肠病临床创新会议:展望儿科炎症性肠病的未来

Picoraro, Joseph A; Lee, Dale; Heller, Caren A; Weaver, Alandra; Hyams, Jeffrey S; Conklin, Laurie S; Otley, Anthony; Ziring, David; Kugathasan, Subra; Rosh, Joel R; Mulberg, Andrew; Denson, Lee A; Kappelman, Michael D; Grossman, Andrew B; Bousvaros, Athos; Park, K T

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders

当前全球监管法规下罕见病监管策略:与利益相关者的讨论

Mulberg, Andrew E; Bucci-Rechtweg, Christina; Giuliano, Joseph; Jacoby, David; Johnson, Franklin K; Liu, Qing; Marsden, Deborah; McGoohan, Scott; Nelson, Robert; Patel, Nita; Romero, Klaus; Sinha, Vikram; Sitaraman, Sheela; Spaltro, John; Kessler, Vivian

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial

米格司他可改善法布里病患者的腹泻:来自3期FACETS试验的临床生物标志物相关性

Schiffmann, Raphael; Bichet, Daniel G; Jovanovic, Ana; Hughes, Derralynn A; Giugliani, Roberto; Feldt-Rasmussen, Ulla; Shankar, Suma P; Barisoni, Laura; Colvin, Robert B; Jennette, J Charles; Holdbrook, Fred; Mulberg, Andrew; Castelli, Jeffrey P; Skuban, Nina; Barth, Jay A; Nicholls, Kathleen

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions

先天性代谢缺陷和其他罕见疾病的神经认知临床结果评估

Shapiro, Elsa; Bernstein, Jessica; Adams, Heather R; Barbier, Ann J; Buracchio, Teresa; Como, Peter; Delaney, Kathleen A; Eichler, Florian; Goldsmith, Jonathan C; Hogan, Melissa; Kovacs, Sarrit; Mink, Jonathan W; Odenkirchen, Joanne; Parisi, Melissa A; Skrinar, Alison; Waisbren, Susan E; Mulberg, Andrew E

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

营养干预在原发性线粒体疾病中的应用:建立循证基础

Camp, Kathryn M; Krotoski, Danuta; Parisi, Melissa A; Gwinn, Katrina A; Cohen, Bruce H; Cox, Christine S; Enns, Gregory M; Falk, Marni J; Goldstein, Amy C; Gopal-Srivastava, Rashmi; Gorman, Gráinne S; Hersh, Stephen P; Hirano, Michio; Hoffman, Freddie Ann; Karaa, Amel; MacLeod, Erin L; McFarland, Robert; Mohan, Charles; Mulberg, Andrew E; Odenkirchen, Joanne C; Parikh, Sumit; Rutherford, Patricia J; Suggs-Anderson, Shawne K; Tang, W H Wilson; Vockley, Jerry; Wolfe, Lynne A; Yannicelli, Steven; Yeske, Philip E; Coates, Paul M