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

Esterification synthesis of iron oxide nanoparticle tracers for magnetic particle imaging (MPI)

用于磁粒子成像(MPI)的氧化铁纳米粒子示踪剂的酯化合成

Velazquez-Albino, Ambar C; Elsea, Bianca; Melnyk, Andrii; Eswaran, Neel; Imhoff, Eric D; Williams, Aleia G; Graham, Willem; Johnson, Jacqueline Anne; Johnson, Charles E; Butala, Megan M; Rinaldi-Ramos, Carlos M

Empowering through structured boundaries: an integral model for fostering balanced eating and nutritional well-being

通过设定结构化的界限来赋能:促进均衡饮食和营养健康的整体模式

Elatrash, Citrine; Macke, Colleen; Shi, Jenna; Wilson, Theresa; Elsea, Sarah H; Sisley, Stephanie

CRISPR/Cas9 gene therapy increases the risk of tumorigenesis in the mouse model of hereditary tyrosinemia type I.

CRISPR/Cas9 基因疗法增加了 I 型遗传性酪氨酸血症小鼠模型发生肿瘤的风险

Chen Tong, Barzi Mercedes, Furey Nika, Kim Hyunjae R, Pankowicz Francis P, Legras Xavier, Elsea Sara H, Hurley Ayrea E, Yang Diane, Wheeler David A, Borowiak Malgorzata, Bissig-Choisat Beatrice, Sumazin Pavel, Bissig Karl-Dimiter

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

MINPP1 的双等位基因功能丧失变异导致脑桥小脑发育不全,并伴有特征性的严重神经发育障碍

Al-Maraghi Aljazi, Shaath Rulan, Ford Katherine, Aamer Waleed, AlRayahi Jehan, Hussein Sura, Aliyev Elbay, Agrebi Nourhen, Kohailan Muhammad, Hubrack Satanay Z, Palaniswamy Sasirekha, Kennedy Adam D, DeBalsi Karen L, Elsea Sarah H, Benini Ruba, Ben-Omran Tawfeg, Lo Bernice, Akil Ammira S A, Fakhro Khalid A

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

Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy

乙基丙二酸脑病对限硫饮食的生化和临床反应

Lang, Steven H; Salgado, Andres Caceres; Snyder, Matthew T; Rawls-Castillo, Brandy; Williams, Aaron; Gijavanekar, Charul; Elsea, Sarah H; Wang, Xia; Tessier, Mary Elizabeth M; Soler-Alfonso, Claudia; Scaglia, Fernando

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

Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder

将基因组测序和非靶向代谢组学整合应用于患有罕见复杂神经系统疾病的同卵双胞胎

Shaath, Rulan; Al-Maraghi, Aljazi; Ali, Haytham; AlRayahi, Jehan; Kennedy, Adam D; DeBalsi, Karen L; Hussein, Sura; Elbashir, Najwa; Padmajeya, Sujitha S; Palaniswamy, Sasirekha; Elsea, Sarah H; Akil, Ammira A; Yousri, Noha A; Fakhro, Khalid A

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

琥珀酸半醛脱氢酶缺乏症诊断和治疗共识指南

Tokatly Latzer, Itay; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L; Elsea, Sarah H; García-Cazorla, Àngels; Gibson, K Michael; Gropman, Andrea L; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Knerr, Ina; Lee, Henry H C; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppebøen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A; Roullet, Jean-Baptiste; Pearl, Phillip L

Broadcasters, receivers, functional groups of metabolites, and the link to heart failure by revealing metabolomic network connectivity

通过揭示代谢组学网络连接,阐明广播器、接收器、代谢物功能组以及与心力衰竭的联系。

Yazdani, Azam; Mendez-Giraldez, Raul; Yazdani, Akram; Wang, Rui-Sheng; Schaid, Daniel J; Kong, Sek Won; Hadi, M Reza; Samiei, Ahmad; Samiei, Esmat; Wittenbecher, Clemens; Lasky-Su, Jessica; Clish, Clary B; Muehlschlegel, Jochen D; Marotta, Francesco; Loscalzo, Joseph; Mora, Samia; Chasman, Daniel I; Larson, Martin G; Elsea, Sarah H