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

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials

精氨酸酶1缺乏症的临床特征:来自国际临床试验的自然病程见解

Rudebeck, Mattias; Braverman, Nancy; Chang, Richard; Enns, Gregory M; Ghosh, Arunabha; Gorce, Magali; Karall, Daniela; Sharma, Reena; Shelkowitz, Emily; Zori, Roberto; McNutt, Markey

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata

代谢组学分析揭示了PEX7缺陷型根状软骨发育不良点状畸形模型中脑脂质的改变

Sankhe, Riya; Williams, Meredith I; Fallatah, Wedad; Mackay, Laura; Brown, Mary Layne; Bhagwat, Pranjali; Elsea, Sarah H; Braverman, Nancy; Wangler, Michael F

Spatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder.

Zellweger 谱系障碍 PEX1-p.Gly844Asp 小鼠模型中 RPE 结构和脂质的空间特征

Omri Samy, Argyriou Catherine, Pryce Rachel S, Di Pietro Erminia, Chaurand Pierre, Braverman Nancy

Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disorders

斑马鱼中 Pex1 功能缺失突变体仍能存活,并重现了泽尔维格谱系障碍的典型特征。

Heins-Marroquin, Ursula; Hodzic, Zlatan; da Silva, Beatriz Soares Carneiro; Hendriks, Agnes; Gavotto, Floriane; Warmoes, Marc O; Schlicker, Lisa; Omri, Samy; Jäger, Christian; Glaab, Enrico; Braverman, Nancy E; Cordero-Maldonado, Maria Lorena; Linster, Carole L

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.

采用多种方法确诊疑似过氧化物酶体生物合成障碍患者

Cheung Anthony C T, Di Pietro Erminia, Argyriou Catherine, Bareke Eric, D'Souza Yasmin, Puri Ratna Dua, Muhammed Shabeer P, Ganetzky Rebecca, Goldstein Amy, Vanderver Adeline, Mohan Shruthi, Majewski Jacek, Yergeau Christine, Braverman Nancy

Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling

利用群体遗传学模型估算 PEX1 介导的泽尔维格谱系障碍的出生率和人群患病率

Malone, Karen E; Argyriou, Catherine; Zavacky, Evelyn; Braverman, Nancy

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

利用 ClinGen 临床有效性框架评估与过氧化物酶体疾病相关的基因的证据强度,并更新过氧化物酶体疾病命名法。

Mohan, Shruthi; Mayers, Megan; Weaver, Meredith; Baudet, Heather; De Biase, Irene; Goldstein, Jennifer; Mao, Rong; McGlaughon, Jennifer; Moser, Ann; Pujol, Aurora; Suchy, Sharon; Yuzyuk, Tatiana; Braverman, Nancy E

Structural Characterization and Quantitation of Ether-Linked Glycerophospholipids in Peroxisome Biogenesis Disorder Tissue by Ultraviolet Photodissociation Mass Spectrometry

利用紫外光解离质谱法对过氧化物酶体生物合成障碍组织中醚键甘油磷脂进行结构表征和定量分析

Blevins, Molly S; Shields, Samuel W J; Cui, Wei; Fallatah, Wedad; Moser, Ann B; Braverman, Nancy E; Brodbelt, Jennifer S

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

利用非靶向代谢组学分析和从分析数据中学习到的疾病特异性网络进行代谢紊乱的临床诊断

Thistlethwaite, Lillian R; Li, Xiqi; Burrage, Lindsay C; Riehle, Kevin; Hacia, Joseph G; Braverman, Nancy; Wangler, Michael F; Miller, Marcus J; Elsea, Sarah H; Milosavljevic, Aleksandar

A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum

一项关于泽尔维格谱系过氧化物酶体生物合成障碍患者听力损失的回顾性研究

Lee, John; Yergeau, Christine; Kawai, Kosuke; Braverman, Nancy; Géléoc, Gwenaëlle S G