文献库，生知库 | 链接生命科学的每一步

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease

定量脑形态测量学可识别晚发型泰-萨克斯病患者的小脑、皮质和皮质下灰质和白质萎缩

期刊:Journal of Inherited Metabolic Disease

Májovská, Jitka; Nestrašil, Igor; Ahmed, Alia; Bondy, Monica T; Klempíř, Jiří; Jahnová, Helena; Schneider, Susanne A; Horáková, Dana; Krásenský, Jan; Ješina, Pavel; Vaneckova, Manuela; Nascene, David R; Whitley, Chester B; Jarnes, Jeanine R; Magner, Martin; Dušek, Petr

神经科学

发表日期：2024

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Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system.

鉴定出一种在心血管系统中活性增强的新型融合艾杜糖醛酸酶

期刊:Molecular Genetics and Metabolism Reports

影响因子:1.9

doi:10.1016/j.ymgmr.2022.100917

Kim Sarah, Przybilla Michael J, Whitley Chester B, Ou Li, Al-Kofahi Mahmoud, Jarnes Jeanine R

心血管

发表日期：2022

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Chitotriosidase as a biomarker for gangliosidoses.

几丁质酶作为神经节苷脂沉积症的生物标志物

期刊:Molecular Genetics and Metabolism Reports

影响因子:1.9

doi:10.1016/j.ymgmr.2021.100803

Kim Sarah, Whitley Chester B, Jarnes Jeanine R

神经科学

发表日期：2021

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Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy

接受标准治疗的1型戈谢病患者的神经化学异常

期刊:Journal of Inherited Metabolic Disease

影响因子:3.8

doi:10.1002/jimd.12182

Kartha, Reena V; Joers, James; Terluk, Marcia R; Travis, Abigail; Rudser, Kyle; Tuite, Paul J; Weinreb, Neal J; Jarnes, Jeanine R; Cloyd, James C; Öz, Gülin

发表日期：2020

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Patients with Gaucher disease display systemic oxidative stress dependent on therapy status

戈谢病患者表现出全身性氧化应激，且该反应与治疗状态相关。

期刊:Molecular Genetics and Metabolism Reports

影响因子:1.9

doi:10.1016/j.ymgmr.2020.100667

Kartha, Reena V; Terluk, Marcia R; Brown, Roland; Travis, Abigail; Mishra, Usha R; Rudser, Kyle; Lau, Heather; Jarnes, Jeanine R; Cloyd, James C; Weinreb, Neal J

Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult

探讨成人肾病性胱氨酸病的多系统影响

Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study

婴儿庞贝病剂量强化治疗（DIT）：一项初步研究

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease

定量脑形态测量学可识别晚发型泰-萨克斯病患者的小脑、皮质和皮质下灰质和白质萎缩

Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system.

鉴定出一种在心血管系统中活性增强的新型融合艾杜糖醛酸酶

Chitotriosidase as a biomarker for gangliosidoses.

几丁质酶作为神经节苷脂沉积症的生物标志物

Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy

接受标准治疗的1型戈谢病患者的神经化学异常

Patients with Gaucher disease display systemic oxidative stress dependent on therapy status

戈谢病患者表现出全身性氧化应激，且该反应与治疗状态相关。