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

Barriers to a successful healthcare transition for individuals with urea cycle disorders

尿素循环障碍患者成功过渡到医疗保健体系的障碍

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2023.107609
Ladha, Farah A; Le Mons, Cynthia; Craigen, William J; Magoulas, Pilar L; Marom, Ronit; Lewis, Andrea M
发表日期：2023
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Choosing between medical management and liver transplant in urea cycle disorders: A conceptual framework for parental treatment decision-making in rare disease

尿素循环障碍的药物治疗与肝移植之争：罕见病家长治疗决策的概念框架

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12209
Gerstein, Maya T; Markus, Anne R; Gianattasio, Kan Z; Le Mons, Cynthia; Bartos, Janice; Stevens, David M; Mew, Nicholas Ah
发表日期：2020
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Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency

鸟氨酸转氨甲酰酶缺乏症患者前额叶皮层神经认知功能的评估

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2019.12.014
Anderson, Afrouz; Gropman, Andrea; Le Mons, Cynthia; Stratakis, Constantine; Gandjbakhche, Amir
神经科学
发表日期：2020
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Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study

鸟氨酸转氨甲酰酶缺乏症患者前额叶皮层血流动力学：双胞胎病例研究

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2020.00809
Anderson, Afrouz A; Gropman, Andrea; Le Mons, Cynthia; Stratakis, Constantine A; Gandjbakhche, Amir H
发表日期：2020
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Glutamine and hyperammonemic crises in patients with urea cycle disorders

尿素循环障碍患者的谷氨酰胺和高氨血症危象

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2015.11.005
Lee, B; Diaz, G A; Rhead, W; Lichter-Konecki, U; Feigenbaum, A; Berry, S A; Le Mons, C; Bartley, J; Longo, N; Nagamani, S C; Berquist, W; Gallagher, R C; Harding, C O; McCandless, S E; Smith, W; Schulze, A; Marino, M; Rowell, R; Coakley, D F; Mokhtarani, M; Scharschmidt, B F
发表日期：2016
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Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate

参与甘油苯丁酸酯临床试验的尿素循环障碍成人和儿童受试者的蛋白质和热量摄入量

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2015.11.002
Hook, Debra; Diaz, George A; Lee, Brendan; Bartley, James; Longo, Nicola; Berquist, William; Le Mons, Cynthia; Rudolph-Angelich, Ingrid; Porter, Marty; Scharschmidt, Bruce F; Mokhtarani, Masoud
发表日期：2016
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Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives

影响尿素循环障碍治疗中药物依从性的障碍：患者、照护者和医护人员的视角评估

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2016.07.003
Shchelochkov, Oleg A; Dickinson, Klara; Scharschmidt, Bruce F; Lee, Brendan; Marino, Miguel; Le Mons, Cynthia
发表日期：2016
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Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder

血氨和谷氨酰胺作为尿素循环障碍患者高氨血症危象的预测指标

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/gim.2014.148
Lee, Brendan; Diaz, George A; Rhead, William; Lichter-Konecki, Uta; Feigenbaum, Annette; Berry, Susan A; Le Mons, Cindy; Bartley, James A; Longo, Nicola; Nagamani, Sandesh C; Berquist, William; Gallagher, Renata; Bartholomew, Dennis; Harding, Cary O; Korson, Mark S; McCandless, Shawn E; Smith, Wendy; Cederbaum, Stephen; Wong, Derek; Merritt, J Lawrence 2nd; Schulze, Andreas; Vockley, Jerry; Kronn, David; Zori, Roberto; Summar, Marshall; Milikien, Douglas A; Marino, Miguel; Coakley, Dion F; Mokhtarani, Masoud; Scharschmidt, Bruce F
发表日期：2015
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Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

参与甘油苯丁酸酯临床试验的尿素循环障碍患者的自我报告治疗相关症状

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2015.08.002
Nagamani, Sandesh C S; Diaz, George A; Rhead, William; Berry, Susan A; Le Mons, Cynthia; Lichter-Konecki, Uta; Bartley, James; Feigenbaum, Annette; Schulze, Andreas; Longo, Nicola; Berquist, William; Gallagher, Renata; Bartholomew, Dennis; Harding, Cary O; Korson, Mark S; McCandless, Shawn E; Smith, Wendy; Vockley, Jerry; Kronn, David; Zori, Robert; Cederbaum, Stephen; Merritt, J Lawrence 2nd; Wong, Derek; Coakley, Dion F; Scharschmidt, Bruce F; Dickinson, Klara; Marino, Miguel; Lee, Brendan H; Mokhtarani, Masoud
发表日期：2015
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Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate

尿苯乙酰谷氨酰胺（U-PAGN）浓度作为甘油苯丁酸酯治疗尿素循环障碍（UCD）患者依从性的生物标志物

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2015.09.003
Mokhtarani, M; Diaz, G A; Lichter-Konecki, U; Berry, S A; Bartley, J; McCandless, S E; Smith, W; Harding, C; Le Mons, C; Coakley, D F; Lee, B; Scharschmidt, B F
发表日期：2015
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