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

Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving Landscape

儿童和青少年神经炎症表型的单基因模拟:不断演变的图景

Gupta, Ayush; Sahjwani, Dhwani; Kahn, Ilana; Gombolay, Grace Yoonheekim; Sen, Kuntal

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

无症状的鸟氨酸氨甲酰转移酶缺乏症携带者是否总是无症状?一项利用加州大学伯克利分校疾病控制中心纵向研究数据库的多中心回顾性风险研究

Sen, Kuntal; Izem, Rima; Long, Yuelin; Jiang, Jiji; Konczal, Laura L; McCarter, Robert J; Gropman, Andrea L; Bedoyan, Jirair K

Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Trofinetide获准用于治疗Rett综合征(RTT)儿童和成人:美国医学遗传学和基因组学学会(ACMG)治疗学公告

Selvam, Pavalan; Mares Beltrán, Carlos F; Sen, Kuntal; Morales Corado, Andrés

Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

奥马维洛酮获准用于治疗 16 岁及以上患有弗里德赖希共济失调 (FRDA) 的患者:美国医学遗传学和基因组学学会 (ACMG) 治疗学公告

Lenahan, Arthur; Yano, Sho; Graham, Brett; Sen, Kuntal

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

生酮饮食治疗线粒体苹果酸天冬氨酸穿梭和丙酮酸载体缺陷

Bölsterli Bigna K, Boltshauser Eugen, Palmieri Luigi, Spenger Johannes, Brunner-Krainz Michaela, Distelmaier Felix, Freisinger Peter, Geis Tobias, Gropman Andrea L, Häberle Johannes, Hentschel Julia, Jeandidier Bruno, Karall Daniela, Keren Boris, Klabunde-Cherwon Annick, Konstantopoulou Vassiliki, Kottke Raimund, Lasorsa Francesco M, Makowski Christine, Mignot Cyril, O'Gorman Tuura Ruth, Porcelli Vito, Santer René, Sen Kuntal, Steinbrücker Katja, Syrbe Steffen, Wagner Matias, Ziegler Andreas, Zöggeler Thomas, Mayr Johannes A, Prokisch Holger, Wortmann Saskia B

Fifteen years of urea cycle disorders brain research: Looking back, looking forward

十五年来的尿素循环障碍脑研究:回顾与展望

Sen, Kuntal; Whitehead, Matthew; Castillo Pinto, Carlos; Caldovic, Ljubica; Gropman, Andrea

Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare Diseases

全球监管和公共卫生倡议推进罕见病儿科药物研发

Epps, Carla; Bax, Ralph; Croker, Alysha; Green, Dionna; Gropman, Andrea; Klein, Agnes V; Landry, Hannah; Pariser, Anne; Rosenman, Marc; Sakiyama, Michiyo; Sato, Junko; Sen, Kuntal; Stone, Monique; Takeuchi, Fumi; Davis, Jonathan M

Management considerations for stroke-like episodes in MELAS with concurrent COVID-19 infection

合并 COVID-19 感染的 MELAS 患者出现卒中样发作的管理注意事项

Sen, Kuntal; Harrar, Dana; Hahn, Andrea; Wells, Elizabeth M; Gropman, Andrea L

Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome

非典型莱氏综合征的遗传和线粒体代谢分析

Uittenbogaard, Martine; Sen, Kuntal; Whitehead, Matthew; Brantner, Christine A; Wang, Yue; Wong, Lee-Jun; Gropman, Andrea; Chiaramello, Anne

Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns

新生儿筛查和危重症新生儿诊断评估中下一代测序检测的伦理问题探讨

Sen, Kuntal; Harmon, Jennifer; Gropman, Andrea L