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

Validated GC-MS methods to detect ethylene, diethylene, and triethylene glycol in serum, plasma, and urine samples.

经验证的 GC-MS 方法可检测血清、血浆和尿液样本中的乙二醇、二乙二醇和三乙二醇

期刊:Bioanalysis
影响因子:1.8
doi:10.1080/17576180.2025.2506352
Abrigo Nicolas, Selaya Susan Daniela, Mohammad Adil, Shakleya Diaa, Brown Dustin G, Zhang Jinhui, Pratt Valerie, Green Jody E, Degunia Amanda, Bennett Michael, Bloom Kaitlyn, Rogers Lynnette, Khan Aiman Q, Heuckeroth Robert O, Faustino Patrick J
多发性硬化症
发表日期：2025
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Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening

通过新生儿筛查发现的极长链酰基辅酶A脱氢酶中意义未明的外显子变异的特征分析

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12492
D'Annibale, Olivia M; Koppes, Erik A; Sethuraman, Meena; Bloom, Kaitlyn; Mohsen, Al-Walid; Vockley, Jerry
发表日期：2022
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ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis

ECHS1 缺乏症是导致严重新生儿乳酸性酸中毒的原因之一

期刊:JIMD Reports
影响因子:1.8
doi:10.1007/8904_2016_538
Ganetzky, Rebecca D; Bloom, Kaitlyn; Ahrens-Nicklas, Rebecca; Edmondson, Andrew; Deardorff, Matthew A; Bennett, Michael J; Ficicioglu, Can
发表日期：2016
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Clinical and biochemical characterization of four patients with mutations in ECHS1

对四名携带 ECHS1 基因突变的患者进行临床和生化特征分析

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-015-0290-1
Ferdinandusse, Sacha; Friederich, Marisa W; Burlina, Alberto; Ruiter, Jos P N; Coughlin, Curtis R 2nd; Dishop, Megan K; Gallagher, Renata C; Bedoyan, Jirair K; Vaz, Frédéric M; Waterham, Hans R; Gowan, Katherine; Chatfield, Kathryn; Bloom, Kaitlyn; Bennett, Michael J; Elpeleg, Orly; Van Hove, Johan L K; Wanders, Ronald J A
发表日期：2015
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