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

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening

苯丙酮尿症的最初1000天：母体苯丙酮尿症及新生儿筛查阳性后早期生命管理的叙述性综述

期刊:Nutrients
影响因子:5
doi:10.3390/nu18020199
Verduci, Elvira; Tosi, Martina; Zuvadelli, Juri; Giorda, Sara; Biasucci, Giacomo; Leuzzi, Vincenzo; Spada, Marco; Burlina, Alberto; Dionisi Vici, Carlo
发表日期：2026
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A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women

一项荟萃分析揭示了女性安德森-法布里病诊断中的不足之处

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70153
Lenzini, L; Pintus, G; Gugelmo, G; Burlina, A P; Fadini, G P; Burlina, A B; Vitturi, N
发表日期：2026
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DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes

DNAJC12疾病：临床表现和长期预后

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200335
Manti, Filippo; Ricciardi, Giacomina; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Carbone, Maria Teresa; Carducci, Claudia; Mei, Davide; Porta, Francesco; Ortolano, Rita; Candela, Egidio; Burlina, Alberto; Guerrini, Renzo; Pisani, Francesco; Angeloni, Antonio; Leuzzi, Vincenzo
发表日期：2026
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Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease

专家意见：如何促进罕见病患者家庭内部沟通——以法布里病为例

期刊:Genetics in Medicine Open
影响因子:
doi:10.1016/j.gimo.2025.103481
Germain, Dominique P; Al-Jasmi, Fatma; Altarescu, Gheona; Azevedo, Olga; Barreto, Fellype C; Burlina, Alessandro P; Ezgü, Fatih; Laney, Dawn A; Linhart, Ales; Maski, Manish; Moiseev, Sergey; Niu, Dau-Ming; Nochioka, Kotaro; Ouyang, Yan; Onay, Huseyin; Pavlou, Mary; Pachter, Nicholas; Politei, Juan; Rawda, Sunbul; Steeds, Richard P; Tuttolomondo, Antonino; Yu, Wen-Chung; West, Michael L; Berger, Kenneth I; Maksimova, Irina
发表日期：2026
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Intracellular Proteins Targeting with Bi-Functionalized Magnetic Nanoparticles Following their Endosomal Escape

利用双功能磁性纳米粒子靶向胞内蛋白，追踪其内体逃逸情况

期刊:Small
影响因子:12.1
doi:10.1002/smll.202410454
Perret, Mélody; Pineda, Estelle; Jeune, Mathilde Le; Nguyen, Tieu Ngoc; Michel, Aude; Illien, Françoise; Siaugue, Jean-Michel; Ménager, Christine; Burlina, Fabienne; Secret, Emilie
发表日期：2025
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Estimating Visual Acuity With Spectacle Correction From Fundus Photos Using Artificial Intelligence

利用人工智能技术，根据眼底照片估算佩戴眼镜矫正后的视力

期刊:Jama Network Open
影响因子:9.7
doi:10.1001/jamanetworkopen.2024.53770
Zhou, Ashley; Li, Zhuolin; Paul, William; Burlina, Philippe; Mocharla, Rohita; Joshi, Neil; Gu, Sophie; Nanegrungsunk, Onnisa; Bressler, Susan; Cai, Cindy X; Alvin Liu, T Y; Moini, Hadi; Sepehrband, Farshid; Bressler, Neil M; Kong, Jun
发表日期：2025
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Antioxidant and Anti-Inflammatory Activity of a New Formulation of Slow-Release Amino Acids in Human Intestinal Caco-2 Cells

一种新型缓释氨基酸制剂在人肠道Caco-2细胞中的抗氧化和抗炎活性

期刊:Antioxidants
影响因子:6.6
doi:10.3390/antiox14030271
Bollati, Carlotta; Tosi, Martina; d'Adduzio, Lorenza; Fanzaga, Melissa; Burlina, Alberto; Zuccotti, Gianvincenzo; Lammi, Carmen; Verduci, Elvira
细胞生物学
Human
发表日期：2025
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Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience

新生儿3-甲基巴豆酰辅酶A羧化酶缺乏症筛查的心理影响：父母的经历

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11040115
Gragnaniello, Vincenza; Gaiga, Giacomo; Cazzorla, Chiara; Porcù, Elena; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Doimo, Mara; Salviati, Leonardo; Burlina, Alberto B
发表日期：2025
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Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden

新生儿戈谢病筛查：父母压力和心理负担

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11010014
Cazzorla, Chiara; Gragnaniello, Vincenza; Gaiga, Giacomo; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Benetti, Giada; Schiavo, Rossana; Porcù, Elena; Burlina, Alessandro P; Burlina, Alberto B
发表日期：2025
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Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program

意大利新生儿中链酰基辅酶A脱氢酶缺乏症（MCADD）筛查：一项全国性计划的五年经验

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11040086
Ruoppolo, Margherita; Cereda, Cristina; Giovanniello, Teresa; Malvagia, Sabrina; Boenzi, Sara; Teofoli, Francesca; On Behalf Of The Simmesn Italian Newborn Screening Group; Burlina, Alberto
发表日期：2025
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