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

A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency

非酮症高甘氨酸血症小鼠表现出甘氨酸升高、叶酸一碳糖化减少和丝氨酸缺乏引起的广泛生化后果

Swanson, Michael A; Jiang, Hua; Kolora, Lakshmi Divya; Molino, Rachel; Reisdorph, Richard; Michel, Cole R; Doenges, Katrina A; Leung, Kit-Yi; Lin, Xiangping; Wong, Frank; Lancaster, Samual; Michael, Basil; Snyder, Michael; Hock, Daniella H; Stroud, David A; Wood, Tim; Binard, Robert; Anderson-Lehman, Laura; Christians, Uwe; Arning, Erland; Friederich, Marisa W; Van Hove, Roxanne A; MacLean, Kenneth N; Greene, Nicholas D E; Van Hove, Johan L K

Postnatal gene restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD) reveals phenotype reversibility

琥珀酸半醛脱氢酶缺乏症 (SSADHD) 的出生后基因恢复揭示了表型可逆性

Lee, Henry H C; McGinty, Gabrielle; Liebhardt, Amanda; Zhang, Zihe; Welzel, Björn; Vermudez, Sheryl Anne D; Arning, Erland; Lin, Rui; Nguyen, Minh; Cakici, Didem; Yu, Timothy; Woolf, Clifford J; Pearl, Phillip L; Gao, Guangping; Sahin, Mustafa; Rotenberg, Alexander

The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

琥珀酸半醛脱氢酶缺乏症患者的癫痫发生率和严重程度与γ-氨基丁酸和皮质兴奋性标志物的减少相一致。

Tokatly Latzer, Itay; Bertoldi, Mariarita; DiBacco, Melissa L; Arning, Erland; Tsuboyama, Melissa; MacMullin, Paul; Sachee, Daniyal; Rotenberg, Alexander; Lee, Henry H C; Aygun, Deniz; Opladen, Thomas; Jeltsch, Kathrin; García-Cazorla, Àngels; Roullet, Jean-Baptiste; Gibson, K Michael; Pearl, Phillip L

Revisiting One-Carbon Metabolites in Human Breast Milk: Focus on S-Adenosylmethionine

重新审视人乳中的一碳代谢物:聚焦S-腺苷甲硫氨酸

Lerin, Carles; Collado, María Carmen; Isganaitis, Elvira; Arning, Erland; Wasek, Brandi; Demerath, Ellen W; Fields, David A; Bottiglieri, Teodoro

One-carbon metabolism in children with marasmus and kwashiorkor

患有消瘦症和夸希奥科病的儿童的单碳代谢

May, Thaddaeus; de la Haye, Bethany; Nord, Gabrielle; Klatt, Kevin; Stephenson, Kevin; Adams, Sara; Bollinger, Lucy; Hanchard, Neil; Arning, Erland; Bottiglieri, Teodoro; Maleta, Kenneth; Manary, Mark; Jahoor, Farook

Absorption and Tissue Distribution of Folate Forms in Rats: Indications for Specific Folate Form Supplementation during Pregnancy

大鼠体内叶酸形式的吸收和组织分布:妊娠期特定叶酸形式补充的指征

Bobrowski-Khoury, Natasha; Sequeira, Jeffrey M; Arning, Erland; Bottiglieri, Teodoro; Quadros, Edward V

Metabolomic Profiling of Adults with Congenital Heart Disease

先天性心脏病成人患者的代谢组学分析

Cedars, Ari; Manlhiot, Cedric; Ko, Jong-Mi; Bottiglieri, Teodoro; Arning, Erland; Weingarten, Angela; Opotowsky, Alexander; Kutty, Shelby

Pharmacodynamics of cerebrospinal fluid asparagine after asparaginase

天冬酰胺酶处理后脑脊液中天冬酰胺的药效学

Panetta, John C; Liu, Yiwei; Bottiglieri, Teodoro; Arning, Erland; Cheng, Cheng; Karol, Seth E; Yang, Jun J; Zhou, Yinmei; Inaba, Hiroto; Pui, Ching-Hon; Jeha, Sima; Relling, Mary V

Preferential accumulation of the active S-(+) isomer in murine retina highlights novel mechanisms of vigabatrin-associated retinal toxicity

活性S-(+)异构体在小鼠视网膜中的优先积累揭示了维加巴特林相关视网膜毒性的新机制

Walters, Dana C; Jansen, Erwin E W; Salomons, Gajja S; Arning, Erland; Ashcraft, Paula; Bottiglieri, Teodoro; Roullet, Jean-Baptiste; Gibson, K Michael

Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

更正:琥珀酸半醛脱氢酶缺乏症 (SSADHD) 患者的尸检组织分析。I. 代谢组学结果

Kirby, Trevor; Walters, Dana C; Brown, Madalyn; Jansen, Erwin; Salomons, Gajja S; Turgeon, Coleman; Rinaldo, Piero; Arning, Erland; Ashcraft, Paula; Bottiglieri, Teodoro; Roullet, Jean-Baptiste; Gibson, K Michael