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

Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis

超越检测:比较各州新生儿筛查方法在有效诊断粘多糖贮积症 I 方面的差异

Thampy, Rithika; Pillai, Nishitha R; Evans, Michael; Whitley, Chester B; Orchard, Paul J; Ellinwood, Matthew; Gaviglio, Amy

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

Jarnes, Jeanine R; Palmer, Rebekah S; Whitley, Chester B

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

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

Jarnes, Jeanine R; Pillai, Nishitha R; Ahmed, Alia; Shrestha, Sofia; Stark, Molly; Whitley, Chester B

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease

法布里病R363C变异体的表型变异性和性别悖论

Leslie, Alison C; Jarnes, Jeanine; Ahmed, Alia; Shrestha, Sofia; Wang, Jeffrey; Whitley, Chester B; Pillai, Nishitha R

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

Intrathecal or intravenous AAV9-IDUA/RGX-111 at minimal effective dose prevents cardiac, skeletal and neurologic manifestations of murine MPS I.

鞘内或静脉注射最小有效剂量的 AAV9-IDUA/RGX-111 可预防小鼠 MPS I 的心脏、骨骼和神经系统症状

Belur Lalitha R, Huber Avery K, Mantone Hillary, Robertson Mason, Smith Miles C, Karlen Andrea D, Kitto Kelley F, Ou Li, Whitley Chester B, Braunlin Elizabeth, Furcich Justin, Lund Troy C, Seelig Davis, Fairbanks Carolyn A, Buss Nicholas, Kim Kwi Hye, McIvor R Scott

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

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

Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study

尽管目前已对 I 型、II 型和 VI 型粘多糖贮积症进行治疗,但仍存在持续性骨骼和关节疾病:一项为期 10 年的前瞻性研究的数据

Miller, Bradley S; Fung, Ellen B; White, Klane K; Lund, Troy C; Harmatz, Paul; Orchard, Paul J; Whitley, Chester B; Polgreen, Lynda E

Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes

利用婴儿体征评分量化赫勒综合征的医学表现:与长期身体和适应性结局的关联

Ahmed, Alia; Rudser, Kyle; King, Kelly E; Eisengart, Julie B; Orchard, Paul J; Shapiro, Elsa; Whitley, Chester B