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

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

接受奥利普达酶α酶替代疗法长达5年的治疗,酸性鞘磷脂酶缺乏症成年患者的临床疗效持续改善:ASCEND试验最终结果

Wasserstein, Melissa P; Hollak, Carla E; Barbato, Antonio; Gallagher, Renata C; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Thurberg, Beth L; Villarrubia, Jesus; Armstrong, Nicole M; Bhushan, Shashi; Kim, Yong; Kumar, Monica

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C

2025年尼曼-匹克病C型共识临床管理指南

Hiwot, Tarekegn; Porter, Forbes D; Bremova-Ertl, Tatiana; Ramaswami, Uma; Hastings, Caroline; Héron, Bénédicte; Hopkin, Justin; Melville, Joella; Amartino, Hernan; Del Toro, Mireia; Deodato, Federica; Ezgü, Fatih; Gissen, Paul; Gibson, James B; Ficicioglu, Can; Giugliani, Roberto; Staretz-Chacham, Orna; Platt, Frances; Guffon, Nathalie; Julich, Kristina; Kresojević, Nikola; Lehman, Anna; Nadjar, Yann; Schneider, Susanne A; Jones, Simon; Mengel, Eugen; Tchan, Michel; Walterfang, Mark; Goker-Alpan, Ozlem; Dawson, Charlotte; Cowie, Sandra; Mathieson, Toni; Berry-Kravis, Elizabeth; Patterson, Marc C

Co-Designing the Early Pain Intervention After Knee Replacement (EPIK) Model of Care for People With Persistent Pain After Knee Replacement

共同设计膝关节置换术后早期疼痛干预(EPIK)护理模式,以改善膝关节置换术后持续疼痛患者的状况

Chadha, Navneet; Zadro, Joshua R; Adie, Sam; Tchan, Maria; Harris, Ian A; Ackerman, Ilana N; Jenkin, Deanne E; Dear, Blake F; Maher, Christopher G; Buchbinder, Rachelle; Billot, Laurent; Cameron, Ian D; Gregson, Tracey; Luck, Brenda; Ferreira, Giovanni E

Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials

儿童痴呆症循环生物标志物的特征分析:临床试验范围综述

D'Silva, Arlene; Barnes, James; Djafar, Jason; Bhattacharya, Kaustuv; Yan, Jingya; Mohammad, Shekeeb; Bandodkar, Sushil; Johnson, Alexandra; Tchan, Michel; Miteff, Christina; Elvidge, Kristina L; Dale, Russell C; Farrar, Michelle

A Pilot Study of Pharmacogenomics in Patients With Kidney Failure of an Unknown Cause

一项针对不明原因肾衰竭患者的药物基因组学试点研究

Sin Lim, Ru; Chung, Yue Ling; Biros, Erik; Harris, Trudie; Fowles, Lindsay; Patel, Chirag; Scuderi, Carla; Tchan, Michel; Rangan, Gopala; Mallawaarachchi, Amali; Faull, Randall; Huntley, Vanessa; Mallett, Andrew J

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders

靶向长读长测序作为单一检测方法可提高痉挛性共济失调疾病的诊断率

Rudaks, Laura Ivete; Stevanovski, Igor; Yeow, Dennis; Reis, Andre L M; Chintalaphani, Sanjog R; Cheong, Pak Leng; Gamaarachchi, Hasindu; Worgan, Lisa; Ahmad, Kate; Hayes, Michael; Hannaford, Andrew; Kim, Samuel; Fung, Victor S C; Halmagyi, Gabor M; Martin, Andrew; Manser, David; Tchan, Michel; Ng, Karl; Kennerson, Marina L; Deveson, Ira W; Kumar, Kishore Raj

Left atrial strain tracks abnormal ventricular mechanics in Fabry disease

左心房应变反映法布里病患者的异常心室力学特征

Cheepvasarach, Chosita; Gribble, Michael; Ugander, Martin; Vijapurapu, Ravi; Nordin, Sabrina; Augusto, Joao; Steeds, Richard Paul; Tchan, Michel; Moon, James C; Pathan, Faraz; Kozor, Rebecca

Disorder of the Neuromuscular Junction as a Mimic of Focal Dystonia

神经肌肉接头疾病可模拟局灶性肌张力障碍

Wilson, Duncan; Morales-Briceno, Hugo; Martin, Andrew J; Ong, Tien Lee; Tchan, Michel C; Mohammad, Shekeeb S; Fung, Victor S C

A Review of Malaria, Diphtheria, and Botulism Medication Distributions by CDC Port Health Stations From May 2006 to February 2024

美国疾病控制与预防中心港口卫生站2006年5月至2024年2月疟疾、白喉和肉毒杆菌中毒药物分发情况回顾

Rubin, Lily; Fowler, Jennifer; Ranga, Srikar; Kirley, Máire; Tchan, Joshua; Pacheco, Maria; Preston, Leigh Ellyn; Waltenburg, Michelle A; Akinkugbe, Olubunmi; Kinzer, Michael H; Alvarado-Ramy, Francisco; Brown, Clive; Gertz, Alida M

Post-ictal Psychosis: clinical case presentation and literature review

发作后精神病:临床病例介绍及文献综述

Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Isfahani, Sanaz Attaripour; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B; Krystal, Sidney; Kumar, Kishore R; Laurencin, Chloé; Lee, Hane; Lesca, Gaetan; François, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A; Milesi, Christophe; Mills, Kelly A; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R; Pal, Swasti; Pallais, Juan C; Pavillard, Frédérique; Perrigault, Pierre-Francois; Petersen, Andrea K; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G; Stevenson, David A; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C; de Vries, Bert B A; Wilson, Jenny L; Wong, Derek A; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C; de Gusmão, Claudio M; Friedman, Jennifer; Fung, Victor S C; King, Mary D; Mohammad, Shekeeb S; Rohena, Luis; Waugh, Jeff L; Toro, Camilo; Raymond, F Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M; Kurian, Manju A; Ramalheira, F; Vasconcelos, M D C; Andrade, M; Pereira, M