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

Restoration of Interaction Between Fatty Acid Oxidation and Electron Transport Chain Proteins In Vitro by Addition of Recombinant VLCAD

通过添加重组VLCAD在体外恢复脂肪酸氧化和电子传递链蛋白之间的相互作用

Wang, Yudong; Varga, Gregory; Wang, Meicheng; Palmfeldt, Johan; Basu, Shakuntala; Koppes, Erik; Jeffrey, Andrew; Hannan, Robert James; Sykuta, Grant; Vockley, Jerry

Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts

Elamipretide可改善线粒体三功能蛋白缺陷小鼠和人类成纤维细胞的线粒体功能

Vieira Neto, Eduardo; Wang, Meicheng; Szuminsky, Austin J; Ferraro, Lethicia; Basu, Shakuntala; Zhao, Xuejun; Karunanidhi, Anuradha; Wang, Yudong; Vockley, Jerry

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study

丙酸血症临床事件发生频率特征及生物标志物评估:一项自然史研究

Schwahn, Bernd C; Berry, Gerard T; Vernon, Hilary J; Li, Hong; Merritt Ii, J Lawrence; Schiff, Manuel; Chabrol, Brigitte; De Las Heras, Javier; Vockley, Jerry; Lee, Chung; Koeberl, Dwight D; Burton, Barbara K; Grunewald, Stephanie; Diaz, George A; Ficicioglu, Can; Morgan, Thomas; Luo, Junxiang; Attarwala, Husain; Liang, Min; Perera, Sue; Sikirica, Vanja

Characterizing protein sequence determinants of nuclear condensates by high-throughput pooled imaging with CondenSeq

利用 CondenSeq 技术进行高通量混合成像,表征核凝聚体的蛋白质序列决定因素

Kalli Kappel,Daniel Strebinger,KeHuan K Edmonds,Samuel Chau-Duy-Tam Vo,Christopher M Vockley,Tridib Biswas,Samouil L Farhi,Rhiannon Macrae,Feng Zhang,Aviv Regev

mRNA therapy as primary and bridge therapy for inborn errors of metabolism

mRNA疗法作为先天性代谢缺陷的一线疗法和桥接疗法

Vockley, Jerry

Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions

异戊酰辅酶A脱氢酶缺乏症(异戊酸血症)诊断和治疗的实用考虑:系统检索和综述以及专家意见

Thimm, Eva; Riederer, Anselma; Vockley, Jerry; Dobbelaere, Dries; Williams, Monique; MacDonald, Anita; Dokoupil, Katharina; Schatz, Ulrich A; Ensenauer, Regina

Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)

血浆代谢组学、脂质组学和酰基肉碱与长链 3-羟酰辅酶A脱氢酶缺乏症 (LCHADD) 患者的视力和基因型相关,但与膳食摄入量无关。

Chung, Hak; Choi, Dongseok; Gregor, Ashley; Sim, Elaine; Lau, Alison; Black, Danielle; Scanga, Hannah L; Linshinski, Angela; Pennesi, Mark E; Sahel, Jose-Alain; Nischal, Ken K; Yang, Paul; Everett, Lesley; Vockley, Jerry; Matern, Dietrich; Harding, Cary O; Gillingham, Melanie B

Preparation of Vitrified Mammalian Cells for In Situ Cryo-Electron Tomography

制备用于原位冷冻电镜断层扫描的玻璃化哺乳动物细胞

Martin-Solana, Eva; Frendi, Sonia; Ning, Jiying; Banks-Tibbs, Tabitha; Vockley, Jerry; Freyberg, Zachary

Rapid Genome Sequencing Compared to a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation

快速基因组测序与基因检测在疑似遗传疾病危重婴儿中的应用:一项经济评估

Lavelle, Tara A; Maron, Jill L; Kingsmore, Stephen F; Lin, Ching-Hsuan; Zhu, Yingying; Sweigart, Benjamin; Reed, Dallas; Gelb, Bruce D; Vockley, Jerry; Davis, Jonathan M

Genetic landscape of pediatric acute liver failure of indeterminate origin

儿童不明原因急性肝衰竭的遗传图谱

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaçlioğlu, Ceyda T; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg F; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger