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

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant

病例报告：揭示非酮症性高甘氨酸血症的遗传和表型变异：一例与新型GLRX5变异相关的非典型早发型病例

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1432272
Marin, Victor; Lebreton, Louis; Guibet, Claire; Mesli, Samir; Redonnet-Vernhet, Isabelle; Dexant, Mathurin; Lamireau, Delphine; Roche, Sandrine; Gaschignard, Margaux; Delmas, Jean; Margot, Henri; Bar, Claire
发表日期：2024
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Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review

病例报告：两例晚发型全羧化酶合成酶缺乏症患儿及简要综述

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1249480
Gaschignard, Margaux; Domenach, Louis; Lamireau, Delphine; Guibet, Claire; Roche, Sandrine; Richard, Emmanuel; Redonnet-Vernhet, Isabelle; Mesli, Samir; Lebreton, Louis
发表日期：2024
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Preventing hyperhomocysteinemia using vitamin B(6) supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

在接受吉伐西兰治疗的急性间歇性卟啉症患者中，补充维生素B6预防高同型半胱氨酸血症：病例报告要点及简要文献综述

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2024.101076
Redonnet-Vernhet, Isabelle; Mercié, Patrick; Lebreton, Louis; Blouin, Jean-Marc; Bronnimann, Didier; Mesli, Samir; Guibet, Claire; Ribeiro, Emmanuel; Gensous, Noémie; Duffau, Pierre; Gouya, Laurent; Richard, Emmanuel
发表日期：2024
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Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation

婴儿原发性肉碱缺乏症：一种严重的心脏疾病，补充肉碱后无反应

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12346
Louis, Lebreton; Margaux, Gaschignard; Claire, Guibet; Delphine, Lamireau; Sandrine, Roche; Emmanuel, Richard; Cécile, Ged; Samir, Mesli; Isabelle, Redonnet-Vernhet
心脏病
发表日期：2023
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Insomnia disorders are associated with increased cardiometabolic disturbances and death risks from cardiovascular diseases in psychiatric patients treated with weight-gain-inducing psychotropic drugs: results from a Swiss cohort

失眠症与接受增重精神药物治疗的精神科患者心血管代谢紊乱和心血管疾病死亡风险增加相关：一项瑞士队列研究的结果

期刊:BMC Psychiatry
影响因子:3.6
doi:10.1186/s12888-022-03983-3
Laaboub, Nermine; Dubath, Céline; Ranjbar, Setareh; Sibailly, Guibet; Grosu, Claire; Piras, Marianna; Délessert, Didier; Richard-Lepouriel, Hélène; Ansermot, Nicolas; Crettol, Severine; Vandenberghe, Frederik; Grandjean, Carole; Delacrétaz, Aurélie; Gamma, Franziska; Plessen, Kerstin Jessica; von Gunten, Armin; Conus, Philippe; Eap, Chin B
心血管疾病
心血管
代谢
发表日期：2022
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Publisher Correction: Insomnia disorders are associated with increased cardiometabolic disturbances and death risks from cardiovascular diseases in psychiatric patients treated with weight-gain-inducing psychotropic drugs: results from a Swiss cohort

出版商更正：失眠症与接受增重精神药物治疗的精神科患者心血管代谢紊乱和心血管疾病死亡风险增加相关：一项瑞士队列研究的结果

期刊:BMC Psychiatry
影响因子:3.6
doi:10.1186/s12888-022-04040-9
Laaboub, Nermine; Dubath, Céline; Ranjbar, Setareh; Sibailly, Guibet; Grosu, Claire; Piras, Marianna; Délessert, Didier; Richard-Lepouriel, Hélène; Ansermot, Nicolas; Crettol, Severine; Vandenberghe, Frederik; Grandjean, Carole; Delacrétaz, Aurélie; Gamma, Franziska; Plessen, Kerstin Jessica; von Gunten, Armin; Conus, Philippe; Eap, Chin B
心血管疾病
心血管
代谢
发表日期：2022
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Associations Between High Plasma Methylxanthine Levels, Sleep Disorders and Polygenic Risk Scores of Caffeine Consumption or Sleep Duration in a Swiss Psychiatric Cohort

瑞士精神病队列研究中高血浆甲基黄嘌呤水平、睡眠障碍与咖啡因摄入或睡眠时长的多基因风险评分之间的关联

期刊:Frontiers in Psychiatry
影响因子:3.2
doi:10.3389/fpsyt.2021.756403
Laaboub, Nermine; Gholam, Mehdi; Sibailly, Guibet; Sjaarda, Jennifer; Delacrétaz, Aurélie; Dubath, Céline; Grosu, Claire; Piras, Marianna; Ansermot, Nicolas; Crettol, Severine; Vandenberghe, Frederik; Grandjean, Carole; Gamma, Franziska; Bochud, Murielle; von Gunten, Armin; Plessen, Kerstin Jessica; Conus, Philippe; Eap, Chin B
发表日期：2021
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Degradation of lambda-carrageenan by Pseudoalteromonas carrageenovora lambda-carrageenase: a new family of glycoside hydrolases unrelated to kappa- and iota-carrageenases

假交替单胞菌属卡拉胶酶对λ-卡拉胶的降解：一种与κ-和ι-卡拉胶酶无关的新型糖苷水解酶家族

期刊:Biochemical Journal
影响因子:4.3
doi:10.1042/BJ20061359
Guibet, Marion; Colin, Sébastien; Barbeyron, Tristan; Genicot, Sabine; Kloareg, Bernard; Michel, Gurvan; Helbert, William
发表日期：2007
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