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

Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy

神经丝轻链作为脑肾上腺脑白质营养不良的预后标志物

Pierpont, Elizabeth I; Gupta, Ashish O; Eisengart, Julie B; Shanley, Ryan; Evans, Rhys O; Loes, Daniel J; Nascene, David; Narayanan, Srikala; Orchard, Paul J; Lund, Troy C

Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I

采用自由水校正的弥散张量成像技术揭示了I型粘多糖贮积症重症亚型和轻症亚型之间的区别

Svatkova, Alena; Pasternak, Ofer; Eisengart, Julie B; Rudser, Kyle D; Bednařík, Petr; Mueller, Bryon A; Delaney, Kathleen A; Shapiro, Elsa G; Whitley, Chester B; Nestrašil, Igor

Suture stent insertion into an over draining tube shunt lumen via single paracentesis

通过单次腹腔穿刺术将缝合支架插入过度引流管分流管腔内

Mohan, Sukriti; Wang, Jessie; Eisengart, Jonathan; Qiu, Mary

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series

骨髓移植逆转多发性硫酸酯酶缺乏症的代谢改变:病例系列研究

Pillai, Nishitha R; Liu, Ning; Li, Xiyuan; Li, Xiqi; Ahrens-Nicklas, Rebecca; Adang, Laura; Eisengart, Julie B; Bronken, Grace; Gupta, Ashish; Lund, Troy C; Whitley, Chester B; Elsea, Sarah H; Orchard, Paul J

Anakinra in Sanfilippo syndrome: a phase 1/2 trial

阿纳白滞素在 Sanfilippo 综合征中的应用:一项 1/2 期临床试验

Lynda E Polgreen, Agnes H Chen, Youngju Pak, Anna Luzzi, Adolfo Morales Garval, Jonathan Acevedo, Gal Bitan, Michelina Iacovino, Cara O'Neill, Julie B Eisengart

Author Correction: Anakinra in Sanfilippo syndrome: a phase 1/2 trial

作者更正:Anakinra治疗Sanfilippo综合征:一项1/2期试验

Polgreen, Lynda E; Chen, Agnes H; Pak, Youngju; Luzzi, Anna; Morales Garval, Adolfo; Acevedo, Jonathan; Bitan, Gal; Iacovino, Michelina; O'Neill, Cara; Eisengart, Julie B

Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan

对接受帕比那夫斯普α治疗的II型粘多糖贮积症患者的照护者观点分析:日本定性访谈结果

Nakamura, Kimitoshi; Sakai, Norio; Hossain, Mohammad Arif; Eisengart, Julie B; Yamamoto, Tatsuyoshi; Tanizawa, Kazunori; So, Sairei; Schmidt, Mathias; Sato, Yuji

Three techniques for guidewire-assisted sulcus glaucoma tube shunt placement

三种导丝辅助下睫状沟青光眼引流管置入术

Shah, Arjav; Kanter, Jacob A; Eisengart, Jonathan; Blieden, Lauren S; Qiu, Mary

Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy

赫勒氏综合征患者脑脊液中糖胺聚糖减少,且未接受脑靶向治疗

Lund, Troy C; Braunlin, Elizabeth; Polgreen, Lynda E; Gupta, Ashish O; Orchard, Paul J; Eisengart, Julie B

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening

肾上腺脑白质营养不良对神经认知和心理健康的影响贯穿人的一生:新生儿筛查时代的启示

Pierpont, Elizabeth I; Isaia, Ashley R; McCoy, Erin; Brown, Sarah J; Gupta, Ashish O; Eisengart, Julie B