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A

Alessandro P. Burlina

S. Bassiano Hospital

42H指数
198论文数
5.9K被引数
收录论文 56
发表时间
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Prognostic role of myocardial storage, hypertrophy and inflammation/fibrosis in Fabry Cardiomyopathy: a new predictive score including T1 values
errEuropean Heart Journal - Quality of Care and Clinical Outcomes
IF0
err2025-12-15
err0
PREAI
errAntonia Camporeale; Gianluigi Guida; Maurizio Pieroni; Federico Pieruzzi; Paola Lusardi; Marta Ferraresi; Laura Econimo; Alessandro Burlina; Renzo Mignani; Francesca Graziani; Valentina Milani; Federico Ambrogi; Lara Tondi; Giandomenico Disabato; Andrea Attanasio; Giada De Angeli; Kelvin Chow; Pietro Spagnolo; Gianpaolo Carrafiello; Massimo Lombardi
err分享
err收藏
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy新生儿筛查法尼酰基鞘氨醇酶缺乏症：意大利的患病率及基因型发现
errInternational Journal of Neonatal Screening 2024, Vol. 10, Page 79
IF4
err2025-08-21
err0
PREAI
errVincenza Gragnaniello; Chiara Cazzorla; Daniela Gueraldi; Christian Loro; Elena Porcù; Leonardo Salviati; Alessandro P. Burlina; Alberto B. Burlina
err分享
err收藏
Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden戈谢病新生儿筛查：父母压力与心理负担
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 14
IF4
err2025-08-21
err0
PREAI
errChiara Cazzorla; Vincenza Gragnaniello; Giacomo Gaiga; Daniela Gueraldi; Andrea Puma; Christian Loro; Giada Benetti; Rossana Schiavo; Elena Porcù; Alessandro P. Burlina; Alberto B. Burlina
err分享
err收藏
European guidelines on diagnosis and treatment of phenylketonuria: First revision欧洲苯丙酮尿症诊断与治疗指南：首次修订
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-06-01
err0
PREAI
errvan Wegberg, A. M. J.; MacDonald, A.; Ahring, K.; Belanger-Quintana, A.; Beblo, S.; Blau, N.; Bosch, A. M.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F.; van Spronsen, F. J.
err分享
err收藏
Arginase 1 deficiency: a treatable form of spastic paraplegia精氨酸酶1缺乏症：一种可治疗的痉挛性截瘫
errthe neurological sciences
IF2.4
err2025-04-16
err0
errOAAI
errBurlina, Alessandro; Ardissone, Anna; Battini, Roberta; Burlina, Alberto; Gasperini, Serena; Pession, Andrea; Porta, Francesco; Vici, Carlo Dionisi
err分享
err收藏
Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2025-02-14
err0
errOAAI
errCazzorla, Chiara; Gragnaniello, Vincenza; Gaiga, Giacomo; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Benetti, Giada; Schiavo, Rossana; Porcu, Elena; Burlina, Alessandro P.; Burlina, Alberto B.
err分享
err收藏
Inflammation and impaired autophagy in Gaucher disease type 1 infants diagnosed by newborn screening
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errGragnaniello, Vincenza; Gueraldi, Daniela; Saracini, Alice; Burlina, Alessandro P.; Burlina, Alberto B.
err分享
err收藏
Reduced incidence of stroke in patients with Fabry disease treated with agalsidase beta: A matched analysis from the Fabry Registry
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errBurlina, Alessandro; Al-Shaar, Laila; Germain, Dominique P.; Banikazemi, Maryam; Ponce, Elvira; Crespo, Ana; Lawson, Victoria; Politei, Juan
err分享
err收藏
Neonatal screening for Fabry disease and long-term follow-up: The role of plasma globotriaosylsphingosine (LysoGb3) assay
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errBurlina, Alberto B.; Gragnaniello, Vincenza; Rivas, Dana Velasquez; Porcu, Elena; Burlina, Alessandro P.
err分享
err收藏
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy酸性鞘磷脂酶缺乏症的新生儿筛查: 意大利的患病率和基因型发现
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2024-12-04
err1
errOAAI
errGragnaniello, Vincenza; Cazzorla, Chiara; Gueraldi, Daniela; Loro, Christian; Porcu, Elena; Salviati, Leonardo; Burlina, Alessandro P.; Burlina, Alberto B.
err分享
err收藏
Family screening after newborn screening: The domino effect for Fabry disease
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err0
PREAI
errBurlina, Alessandro; Gragnaniello, Vincenza; Gueraldi, Daniela; Puma, Andrea; Cazzorla, Chiara; Loro, Christian; Burlina, Alberto
err分享
err收藏
Stroke in patients with Fabry disease: A Fabry Registry analysis of natural history data from patients stratified by disease phenotype
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err0
PREAI
errBurlina, Alessandro P.; Politei, Juan; Crespo, Ana; Ponce, Elvira; Batista, Julie; Maski, Manish; Ebels, Johan T.; Al-Shaar, Laila
err分享
err收藏
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2023-12-25
err6
errOAAI
errGragnaniello, Vincenza; Cazzorla, Chiara; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Porcu, Elena; Stornaiuolo, Maria; Miglioranza, Paolo; Salviati, Leonardo; Burlina, Alessandro P.; Burlina, Alberto B.
err分享
err收藏
Health-related quality of life in a european sample of adults with early-treated classical PKU
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2023-09-22
err5
errOAAI
errMaissen-Abgottspon, Stephanie; Muri, Raphaela; Hochuli, Michel; Reismann, Peter; Barta, Andras Gellert; Alptekin, Ismail Mucahit; Hermida-Ameijeiras, Alvaro; Burlina, Alessandro P.; Burlina, Alberto B.; Cazzorla, Chiara; Carretta, Jessica; Trepp, Roman; Everts, Regula
err分享
err收藏
Newborn Screening for Fabry Disease: Current Status of Knowledge
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2023-06-05
err11
errOAAI
errGragnaniello, Vincenza; Burlina, Alessandro P.; Commone, Anna; Gueraldi, Daniela; Puma, Andrea; Porcu, Elena; Stornaiuolo, Maria; Cazzorla, Chiara; Burlina, Alberto B.
err分享
err收藏
An expert consensus on the recommendations for the use of biomarkers in Fabry disease
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-06-01
err19
errOAAI
errBurlina, Alessandro; Brand, Eva; Hughes, Derralynn; Kantola, Ilkka; Kraemer, Johannes; Nowak, Albina; Tondel, Camilla; Wanner, Christoph; Spada, Marco
err分享
err收藏
Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria (vol 17, 443, 2022)
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2023-03-03
err1
errOAAI
errManti, Filippo; Caviglia, Stefania; Cazzorla, Chiara; Dicintio, Annamaria; Pilotto, Andrea; Burlina, Alessandro P.
err分享
err收藏
Newborn screening for Gaucher disease in Italy: Birth prevalence and outcome
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-02-01
err0
PREAI
errBurlina, Alberto; Gragnaniello, Vincenza; Gueraldi, Daniela; Cazzorla, Chiara; Puma, Andrea; Commone, Anna; Massa, Pamela; Loro, Christian; Burlina, Alessandro
err分享
err收藏
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-02-01
err12
errOAAI
errHopkin, Robert J.; Cabrera, Gustavo H.; Jefferies, John L.; Yang, Meng; Ponce, Elvira; Brand, Eva; Feldt-Rasmussen, Ulla; Germain, Dominique P.; Guffon, Nathalie; Jovanovic, Ana; Kantola, Ilkka; Karaa, Amel; Martins, Ana M.; Tondel, Camilla; Wilcox, William R.; Yoo, Han-Wook; Burlina, Alessandro P.; Mauer, Michael
err分享
err收藏
Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-02-01
err0
PREAI
errGragnaniello, Vincenza; Gueraldi, Daniela; Cazzorla, Chiara; Puma, Andrea; Commone, Anna; Massa, Pamela; Loro, Christian; Burlina, Alessandro; Burlina, Alberto
err分享
err收藏

研究方向

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合作期刊
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Christoph Wanner
H 指数: 135 · 论文数: 1.3K
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Alberto Ortíz
H 指数: 126 · 论文数: 1.5K
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