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

Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies

口服N-乙酰甘露糖胺治疗原发性足细胞病的I期研究

Huizing, Marjan; Ganguli, Anirban; Bolaños, Jonathan; Leoyklang, Petcharat; Wilkins, Kenneth J; Zeng, Yi; Figg, William D; Rossignol, Francis; Malicdan, May Christine V; Kopp, Jeffrey B; Gahl, William A

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

缺乏 Lyst 的小鼠模型重现了 Chediak-Higashi 综合征,并表现出更早发病的神经退行性表型

Greene Sunny, Talbert Mackenzie L, Frost F Graeme, Zerfas Patricia M, Springer Danielle, Noguchi Audrey, Morimoto Marie, Maynard Dawn, Garrett Lisa, Elliot Gene, Traver Maria, Yarnell David, Leoyklang Petcharat, Burke John D, Nicoli Elena-Raluca, Gahl William A, Introne Wendy J, Malicdan May Christine V

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder

对溶酶体游离唾液酸贮积症的小鼠和人类细胞模型中的糖鞘脂变化进行分析

Sabir, Marya S; Dobrenis, Kostantin; Rha, Allisandra K; Pollard, Laura; Leoyklang, Petcharat; Marrero, Mariah; Ciccone, Carla; Hackbarth, Mary E; Huizing, Marjan; Wang, Raymond Y; Gahl, William A; Platt, Frances M; Malicdan, May Christine V

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

探讨白细胞唾液酸测定在溶酶体游离唾液酸贮积症中的应用价值

Sabir, Marya S; Pollard, Laura; Wolfe, Lynne; Adams, David R; Ciccone, Carla; Leoyklang, Petcharat; Platt, Frances M; Huizing, Marjan; Gahl, William A; Malicdan, May Christine V

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

N-乙酰甘露糖胺 (ManNAc) 治疗 GNE 肌病患者的安全性和有效性:一项开放标签的 II 期研究

Carrillo, Nuria; Malicdan, May C; Leoyklang, Petcharat; Shrader, Joseph A; Joe, Galen; Slota, Christina; Perreault, John; Heiss, John D; Class, Bradley; Liu, Chia-Ying; Bradley, Kennan; Jodarski, Colleen; Ciccone, Carla; Driscoll, Claire; Parks, Rebecca; Van Wart, Scott; Bayman, Levent; Coffey, Christopher S; Quintana, Melanie; Berry, Scott M; Huizing, Marjan; Gahl, William A

Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases

N-乙酰甘露糖胺治疗原发性肾小球疾病的I期研究的理论依据和设计

Huizing, Marjan; Yardeni, Tal; Fuentes, Federico; Malicdan, May C V; Leoyklang, Petcharat; Volkov, Alexander; Dekel, Benjamin; Brede, Emily; Blake, Jodi; Powell, Alva; Chatrathi, Harish; Anikster, Yair; Carrillo, Nuria; Gahl, William A; Kopp, Jeffrey B

Quantification of lectin fluorescence in GNE myopathy muscle biopsies.

GNE肌病肌肉活检中凝集素荧光的定量分析

Leoyklang Petcharat, Class Bradley, Noguchi Satoru, Gahl William A, Carrillo Nuria, Nishino Ichizo, Huizing Marjan, Malicdan May Christine

Non-specific accumulation of glycosphingolipids in GNE myopathy

GNE肌病中糖鞘脂的非特异性积累

Patzel, Katherine A; Yardeni, Tal; Le Poëc-Celic, Erell; Leoyklang, Petcharat; Dorward, Heidi; Alonzi, Dominic S; Kukushkin, Nikolay V; Xu, Bixue; Zhang, Yongmin; Sollogoub, Matthieu; Blériot, Yves; Gahl, William A; Huizing, Marjan; Butters, Terry D

Mutation update for GNE gene variants associated with GNE myopathy

与GNE肌病相关的GNE基因变异突变更新

Celeste, Frank V; Vilboux, Thierry; Ciccone, Carla; de Dios, John Karl; Malicdan, May Christine V; Leoyklang, Petcharat; McKew, John C; Gahl, William A; Carrillo-Carrasco, Nuria; Huizing, Marjan