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

Cardiac dysfunction and altered gene expression in acid ceramidase-deficient mice.

酸性神经酰胺酶缺乏小鼠出现心脏功能障碍和基因表达改变

Kleynerman Annie, Rybova Jitka, McKillop William M, Dlugi Theresa A, Faber Mary L, Fuller Maria, O'Meara Caitlin C, Medin Jeffrey A

Sphingolipids in Gaucher disease: a systematic review

戈谢病中的鞘脂:系统性综述

Lake, Ashleigh; Fuller, Maria

Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study

南澳大利亚单中心队列中囊性纤维化的诊断率:一项回顾性研究

Markulić, Jasmina; Fuller, Maria

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses

构建同时携带 Hexa Gly269Ser KI 或 KO 和 Neu3 KO 等位基因的小鼠模型,以建立新的 GM2 神经节苷脂沉积症模型。

Barker, Emily N; Ashiri, Mehrafarin; Saville, Jennifer T; Hemming, Richard; Furletti, Nikolas; Dhume, Shreya H; Yu, Shirley; Anjos, Elaine; Wu, Xiaoli; Fresnoza, Agnes; Merz, David C; Jackson, Mike; Del Bigio, Marc R; Siddiqui, Tabrez J; Fuller, Maria; Mark, Brian L; Triggs-Raine, Barbara

Fabry Disease Podocytes Reveal Ferroptosis as a Potential Regulator of Cell Pathology

法布里病足细胞揭示铁死亡作为细胞病理学的潜在调节因子

Wise, Andrea F; Krisnadevi, Igaa Ari; Bruell, Shoni; Lee, Han-Chung; Bhuvan, Tejasvini; Kassianos, Andrew J; Saini, Sheetal; Wang, Xiangju; Healy, Helen G; Qian, Elizabeth Ling; Elliot, David A; Steele, Joel R; Fuller, Maria; Nicholls, Kathleen M; Ricardo, Sharon D

Plasma C24:0 ceramide impairs adipose tissue remodeling and promotes liver steatosis and glucose imbalance in offspring of rats

血浆C24:0神经酰胺会损害大鼠后代的脂肪组织重塑,并促进肝脏脂肪变性和葡萄糖失衡。

Camacho-Morales, Alberto; Noriega, Lilia G; Sánchez-García, Adriana; Torre-Villalvazo, Ivan; Vázquez-Manjarrez, Natalia; Maldonado-Ruiz, Roger; Cárdenas-Tueme, Marcela; Villegas-Romero, Mariana; Alamilla-Martínez, Itzayana; Rodriguez-Rocha, Humberto; Garcia-Garcia, Aracely; Corona, Juan Carlos; Tovar, Armando R; Saville, Jennifer; Fuller, Maria; Gonzalez-Gonzalez, José Gerardo; Rivas-Estilla, Ana María

GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals

GLA修饰的RNA治疗可降低法布里病患者iPSC来源心肌细胞中的GB3水平

Ter Huurne, Menno; Parker, Benjamin L; Liu, Ning Qing; Qian, Elizabeth Ling; Vivien, Celine; Karavendzas, Kathy; Mills, Richard J; Saville, Jennifer T; Abu-Bonsrah, Dad; Wise, Andrea F; Hudson, James E; Talbot, Andrew S; Finn, Patrick F; Martini, Paolo G V; Fuller, Maria; Ricardo, Sharon D; Watt, Kevin I; Nicholls, Kathy M; Porrello, Enzo R; Elliott, David A

Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis

内源性非还原末端糖胺聚糖生物标志物优于内部二糖糖胺聚糖生物标志物,可用于新生儿粘多糖贮积症和GM1神经节苷脂病的筛查。

Herbst, Zackary M; Hong, Xinying; Urdaneta, Leslie; Klein, Terri; Waggoner, Christine; Liao, Hsuan-Chieh; Kubaski, Francyne; Giugliani, Roberto; Fuller, Maria; Gelb, Michael H

Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans

新生儿干血斑黏多糖贮积症全套筛查,首先进行酶法检测,然后进行糖胺聚糖的二阶分析。

Herbst, Zackary M; Hong, Xinying; Sadilek, Martin; Fuller, Maria; Gelb, Michael H

Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results

内源性非还原末端糖胺聚糖生物标志物在粘多糖贮积症中的应用:准确诊断并消除新生儿筛查假阳性结果

Saville, Jennifer T; Herbst, Zackary M; Gelb, Michael H; Fuller, Maria