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

Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report

短期强化阿伐葡萄糖苷酶α方案治疗晚期诊断的婴儿型庞贝病：病例报告

期刊:
影响因子:
doi:10.3390/reports9010031
Gragnaniello, Vincenza; Pozza, Alice; Cazzorla, Chiara; Gueraldi, Daniela; Di Salvo, Giovanni; Burlina, Alberto B
发表日期：2026
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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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The Hidden Burden: Gastrointestinal Involvement in Lysosomal Storage Disorders

隐性负担：溶酶体贮积症的胃肠道受累

期刊:Metabolites
影响因子:3.7
doi:10.3390/metabo15060361
Gragnaniello, Vincenza; Cazzorla, Chiara; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Burlina, Alberto B
发表日期：2025
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Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails

基于神经放射学检查结果诊断戊二酸尿症 I 型：新生儿筛查失败时

期刊:Italian Journal of Pediatrics
影响因子:3.1
doi:10.1186/s13052-025-01975-z
Gragnaniello, Vincenza; Puma, Andrea; Gueraldi, Daniela; D'Errico, Ignazio; Cazzorla, Chiara; Loro, Christian; Porcù, Elena; Salviati, Leonardo; Burlina, Alberto B
发表日期：2025
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Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease

病例报告：戈谢病3型重度间质性肺病的新治疗方法

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2025.1604433
Gragnaniello, Vincenza; Carraro, Silvia; Zangardi, Tiziana; Cazzorla, Chiara; Gueraldi, Daniela; Burlina, Alberto B
特发性肺纤维化
发表日期：2025
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Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening

通过新生儿筛查发现戈谢病患儿的炎症和自噬功能障碍的自然史

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101187
Gragnaniello, V; Gueraldi, D; Saracini, A; Velasquez Rivas, D; Cazzorla, C; Salviati, L; Burlina, A B
炎症/感染
炎症
自噬
发表日期：2025
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Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy

意大利新生儿酸性鞘磷脂酶缺乏症筛查：患病率和基因型结果

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns10040079
Gragnaniello, Vincenza; Cazzorla, Chiara; Gueraldi, Daniela; Loro, Christian; Porcù, Elena; Salviati, Leonardo; Burlina, Alessandro P; Burlina, Alberto B
发表日期：2024
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Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression

肾移植合并甲基丙二酸血症患者发生非霍奇金淋巴瘤：代谢易感性和免疫抑制的作用

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12411
Burlina, Alberto B; Burlina, Alessandro P; Mignani, Renzo; Cazzorla, Chiara; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Baumgartner, Matthias R; Gragnaniello, Vincenza
代谢
淋巴瘤
免疫/内分泌
发表日期：2024
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Newborn Screening for Fabry Disease: Current Status of Knowledge

新生儿法布里病筛查：当前知识状况

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns9020031
Gragnaniello, Vincenza; Burlina, Alessandro P; Commone, Anna; Gueraldi, Daniela; Puma, Andrea; Porcù, Elena; Stornaiuolo, Maria; Cazzorla, Chiara; Burlina, Alberto B
发表日期：2023
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