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

Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data

探索CLN2临床评定量表的并发效度：使用cerliponase alfa临床试验数据与PedsQL进行比较

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0302382
Specchio, Nicola; Gissen, Paul; de Los Reyes, Emily; Olaye, Andrew; Camp, Charlotte; Curteis, Tristan; Griffiths, Annabel; Butt, Thomas; Cohen-Pfeffer, Jessica; Slasor, Peter; Sisic, Zlatko; Jain, Mohit; Schulz, Angela
发表日期：2024
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Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

基因检测在儿童癫痫诊断中的价值：促进2型蜡样脂褐质沉积症（巴顿病）的早期诊断

期刊:Epilepsia
影响因子:6.6
doi:10.1111/epi.17269
Leal-Pardinas, Fernanda; Truty, Rebecca; McKnight, Dianalee A; Johnson, Britt; Morales, Ana; Bristow, Sara L; Yar Pang, Tiffany; Cohen-Pfeffer, Jessica; Izzo, Emanuela; Sankar, Raman; Koh, Sookyong; Wirrell, Elaine C; Millichap, John J; Aradhya, Swaroop
癫痫
神经科学
发表日期：2022
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Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

塞利波酶α治疗CLN2疾病非典型表型：回顾性病例系列研究

期刊:Journal of Child Neurology
影响因子:1.6
doi:10.1177/0883073820977997
Wibbeler, Eva; Wang, Raymond; Reyes, Emily de Los; Specchio, Nicola; Gissen, Paul; Guelbert, Norberto; Nickel, Miriam; Schwering, Christoph; Lehwald, Lenora; Trivisano, Marina; Lee, Laura; Amato, Gianni; Cohen-Pfeffer, Jessica; Shediac, Renée; Leal-Pardinas, Fernanda; Schulz, Angela
发表日期：2021
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Sapropterin Dihydrochloride Mixed With Common Foods and Beverages

盐酸沙丙蝶呤与常见食品和饮料混合

期刊:Topics in Clinical Nutrition
影响因子:0.4
doi:10.1097/TIN.0000000000000010
Jurecki, Elaina R; Cunningham, Amy; Mahoney, John J; Tingley, Douglas; Chung, Stanley; James, Neil; Cohen-Pfeffer, Jessica L
发表日期：2014
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Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

新生儿筛查和早期生化随访在甲基丙二酸尿症和同型半胱氨酸尿症（cblC型）中的应用，以及蛋氨酸作为二级筛查分析物的效用

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2009.09.008
Weisfeld-Adams, James D; Morrissey, Mark A; Kirmse, Brian M; Salveson, Bobbie R; Wasserstein, Melissa P; McGuire, Peter J; Sunny, Sherlykutty; Cohen-Pfeffer, Jessica L; Yu, Chunli; Caggana, Michele; Diaz, George A
发表日期：2010
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Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation

肝红细胞生成性卟啉病误诊为儿童虐待：携带新型 UROD 突变的兄弟姐妹出现皮肤、关节炎和血液系统表现

期刊:
影响因子:
doi:10.1001/archdermatol.2010.89
Cantatore-Francis, Julie L; Cohen-Pfeffer, Jessica; Balwani, Manisha; Kahn, Philip; Lazarus, Herbert M; Desnick, Robert J; Schaffer, Julie V
卟啉病
细胞生物学
代谢
红细胞
关节炎
发表日期：2010
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