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

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism

溶酶体游离唾液酸贮积症患者的诱导多能干细胞衍生神经细胞表现出糖鞘脂代谢异常

Sabir, Marya S; Jovanovic, Vukasin M; Ryu, Seungmi; Sen, Chaitali; Ormanoglu, Pinar; Pollard, Laura; Steet, Richard; Gahl, William A; Huizing, Marjan; Tristan, Carlos A; Platt, Frances M; Malicdan, May Christine V

Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease

Slc17a5杂合子小鼠神经节苷脂未发生显著变化:与家族性自闭症谱系障碍和帕金森病的相关性

Sabir, Marya S; Hossain, Mahin S; Pollard, Laura; Huizing, Marjan; Gahl, William A; Platt, Frances M; 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

Dissecting the impact of N-acetylmannosamine (ManNAc) on ganglioside levels in a sialin-deficient cell model

在唾液酸缺乏细胞模型中剖析 N-乙酰甘露糖胺 (ManNAc) 对神经节苷脂水平的影响

Sabir, Marya S; Huizing, Marjan; Gahl, William A; Platt, Frances M; Malicdan, May Christine V

Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

溶酶体游离唾液酸贮积症患者血浆和脑脊液中糖鞘脂水平的变化

Sabir, Marya S; Wolfe, Lynne; Adams, David R; Ciccone, Carla; Porter, Forbes D; Gahl, William A; Huizing, Marjan; Platt, Frances M; Malicdan, May Christine V

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Chediak-Higashi综合征中LYST基因突变谱:新变异体的报告及文献综述

Morimoto, Marie; Nicoli, Elena-Raluca; Kuptanon, Chulaluck; Roney, Joseph C; Serra-Vinardell, Jenny; Sharma, Prashant; Adams, David R; Gallin, John I; Holland, Steven M; Rosenzweig, Sergio D; Barbot, Jose; Ciccone, Carla; Huizing, Marjan; Toro, Camilo; Gahl, William A; Introne, Wendy J; Malicdan, May Christine V

Impact of Food on the Oral Absorption of N-Acetyl-D-Mannosamine in Healthy Men and Women

食物对健康男女口服N-乙酰-D-甘露糖胺吸收的影响

Evans, Allan M; Fornasini, Gianfranco; Meola, Tahlia R; Gahl, William A; Huizing, Marjan; Polasek, Thomas M; Reuter, Stephanie E

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