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

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease

米格鲁司他:一种用于治疗晚发型庞贝病的西帕葡萄糖苷酶α的首创酶稳定剂

Hopkin, Robert J; Byrne, Barry J; Dimachkie, Mazen M; Kishnani, Priya S; Mozaffar, Tahseen; Roberts, Mark; Schoser, Benedikt; van der Beek, Nadine A M E; van der Ploeg, Ans T; Wenninger, Stephan; Brudvig, Jon; Fox, Brian; Holdbrook, Fred; Jain, Vipul; Johnson, Franklin; Zhang, Jennifer; Parenti, Giancarlo

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines

一种新的多系统ERCC1肝肾综合征:来自临床队列、分子发病机制和治疗指南的见解

White, Susan M; Wondergem, Annelotte P; Breet, Isa; Dittmaier, Maren; Bell, Katrina; Richmond, Christopher M; Hardikar, Winita; Bhatia, Kanika; Quinlan, Catherine; Orchard, David; D'Souza, Areetha; Chazin, Walter J; Smith, Christopher; Sparkes, Rebecca; Lam, Simon; Carter, Alexandra; Hopkin, Robert J; Khendek, Leticia; Sullivan, Bonnie R; Becher, Naja; Simonsen, Anne Katrine W; Kvistgaard, Helene; Dempsey, Katherine; Miethke, Alexander G; Gregersen, Pernille Axél; Phillips, Eliza; Luijsterburg, Martijn S

Long-term efficacy of migalastat in females with Fabry disease

米格司他治疗女性法布里病的长期疗效

Kallish, Staci; Camporeale, Antonia; Hopkin, Robert J; Jovanovic, Ana; Nordbeck, Peter; Veleva-Rotse, Biliana O; Krusinska, Eva; Torra, Roser

Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters)

女性法布里病:器官受累情况和临床结果与一般人群的比较(103/150 个字符)

Hopkin, Robert J; Laney, Dawn; Kazemi, Sean; Walter, Angela

A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy

奥库尔-钟氏神经发育综合征和贝克尔氏肌营养不良症的双重诊断:探究肌营养不良症导致的神经发育功能下限

Liu, Victoria; Hanson, Eva; Owens, Joshua W; Hopkin, Robert J; Shillington, Amelle

Guidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiency

关于因17β-羟类固醇脱氢酶3型缺乏症导致性发育差异的个体进行睾丸切除术的共同决策指南

Yu, Lissa X; Johnson, Jodie; Pennesi, Christine M; Ernst, Michelle M; Strine, Andrew; Matheny Antommaria, Armand H; Hopkin, Robert J; Sandberg, David E; Khorashad, Behzad; Mohnach, Lauren; Heider, Amer; Rutter, Meilan M

The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome": A case report of the 7th diagnosed individual and review of the literature

科内莉亚·德·兰格样“阿拉扎米-袁综合征”的表型谱:第7例确诊病例报告及文献综述

Pappas, Annie; Mooney, Mary; Kohnen, Katherine; Owens, Joshua W; Zhang, Wenying; Hopkin, Robert J; Shillington, Amelle

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome

扩展1型神经纤维瘤病微缺失综合征的表型

Garzon, Jenny P; Patete, Andrea; Aschbacher-Smith, Lindsey; Qu'd, Dima; Kelly-Mancuso, Geraldine; Raski, Carolyn R; Weisman, Allison Goetsch; Hankins, Madison; Sawin, Michael; Kim, Katherine; Drackley, Andy; Zeid, Janice; Weaver, K Nicole; Hopkin, Robert J; Saal, Howard M; Charrow, Joel; Schorry, Elizabeth; Listernick, Robert; Simpson, Brittany N; Prada, Carlos E

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

在患有法布里病且肾功能恶化的患者中,培尼加糖酶α与阿加糖酶β的头对头试验:来自为期2年的随机III期BALANCE研究的结果

Wallace, Eric L; Goker-Alpan, Ozlem; Wilcox, William R; Holida, Myrl; Bernat, John; Longo, Nicola; Linhart, Aleš; Hughes, Derralynn A; Hopkin, Robert J; Tøndel, Camilla; Langeveld, Mirjam; Giraldo, Pilar; Pisani, Antonio; Germain, Dominique Paul; Mehta, Ankit; Deegan, Patrick B; Molnar, Maria Judit; Ortiz, Damara; Jovanovic, Ana; Muriello, Michael; Barshop, Bruce A; Kimonis, Virginia; Vujkovac, Bojan; Nowak, Albina; Geberhiwot, Tarekegn; Kantola, Ilkka; Knoll, Jasmine; Waldek, Stephen; Nedd, Khan; Karaa, Amel; Brill-Almon, Einat; Alon, Sari; Chertkoff, Raul; Rocco, Rossana; Sakov, Anat; Warnock, David G

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies

RAS病患者的颅缝早闭的产前和婴儿期诊断

Serbinski, Carolyn R; Vanderwal, April; Chadwell, Sarah E; Sanchez, Ana Isabel; Hopkin, Robert J; Hufnagel, Robert B; Weaver, K Nicole; Prada, Carlos E