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A

Alberto Burlina

university hospital of padua
H指数:63
被引数:1.6万

个人简介

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工作经历

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荣誉奖项

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DNAJC12 Disease

DNAJC12疾病

Neurology-Genetics
IF3.7
2026-02-010
PRE
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
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension Study

长期Sepiapterin治疗对苯丙酮尿症患者饮食苯丙氨酸耐受性的影响：APHENITY扩展研究III期研究的阶段性结果

Genetics in Medicine
IF6.2
2026-01-120
OAAI
Francjan van Spronsen; Heidi Peters; Lali Margvelashvili; Dodo Agladze; Ida Vanessa D. Schwartz; Maria Giżewska; Takashi Hamazaki; Laura Guilder; Anita MacDonald; Suresh Vijay; Anita Inwood; Maria Minami; Olivia Fjellbirkeland; Allan Lund; Melissa Lah; Janet A. Thomas; Nicola Longo; Ertuğrul Kiykim; Mika Ishige; Alberto Burlina
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years’ Experience from a Nationwide Program

中链酰基辅酶A脱氢酶缺乏症（MCADD）新生儿筛查在意大利：全国性项目五年的经验

International Journal of Neonatal Screening 2025, Vol. 11, Page 86
IF4
2025-09-290
OAAI
Margherita Ruoppolo; Cristina Cereda; Teresa Giovanniello; Sabrina Malvagia; Sara Boenzi; Francesca Teofoli; on behalf of the SIMMESN Italian Newborn Screening Group; Alberto Burlina
Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey

遗传代谢病中的过渡期：营养师、儿科医生和成人科医生的观点：一项意大利调查的结果

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2025-05-220
OA
Rossi, Alice; Pancaldi, Chiara; Regazzi, Maria Giulia; Agnelli, Giulio; Assirelli, Valentina; Barbato, Antonio; Baronio, Federico; Benso, Andrea; Bernabei, Silvia Maria; Biasucci, Giacomo; Botti, Mara; Bonfanti, Cristina; Bordugo, Andrea; Bruni, Giulia; Burlina, Alberto; Candela, Egidio; Carbone, Maria Teresa; Carella, Rosa; Carubbi, Francesca; Cianflone, Annalia; Cipriani, Alessandra; Coacci, Silvia; Da Prato, Giuliana; De Leo, Sabrina; Di Natale, Valeria; Dianin, Alice; Dionisi Vici, Carlo; Fasan, Ilaria; Ferraro, Stefania; Filosto, Massimiliano; Gasperini, Serena; Giorda, Sara; Gugelmo, Giorgia; Guzzetti, Chiara; Latina, Concetta; Loro, Christian; Maines, Evelina; Marchi, Giacomo; Massimino, Elena; Mita, Dorina; Nardecchia, Francesca; Noto, Davide; Ortolano, Rita; Paci, Sabrina; Parini, Rossella; Parolisi, Sara; Paterno, Giulia; Pontillo, Lidia; Pozzoli, Angela; Pretese, Roberta; Quattrini, Sara; Re Dionigi, Alice; Rovelli, Valentina; Salera, Simona; Santini, Ferruccio; Scala, Iris; Sechi, Annalisa; Sgattoni, Claudia; Stecchi, Michele; Tavian, Alessandra; Toscano, Antonio; Tummolo, Albina; Urban, Maria Letizia; Verrecchia, Elena; Vitturi, Nicola; Zuppaldi, Claudia; Zuvadelli, Juri; Brodosi, Lucia
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity
NUTRIENTS
IF5
2024-08-310
OAAI
Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Gokmen-Ozel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Aysegul; MacDonald, Anita
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

来自欧洲2012年和2018的苯丙酮尿症患者的血苯丙氨酸水平: 这是一个变化的景观吗？

NUTRIENTS
IF5
2024-06-281
OAAI
Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Goekmen-oezel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Ayseguel; Macdonald, Anita
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b

依帕列净治疗21例糖原贮积病1b婴儿的中性粒细胞减少和中性粒细胞功能障碍

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-06-011
OAAI
Gruenert, Sarah C.; Gautschi, Matthias; Baker, Joshua; Boyer, Monica; Burlina, Alberto; Casswall, Thomas; Corpeleijn, Willemijn; Ciki, Kismet; Cotter, Melanie; Crushell, Ellen; Derks, Terry G. J.; Haas, Dorothea; Kilavuz, Sebile; Kingma, Sandra D. K.; Korman, Stanley H.; Kozek, Anne; de Laet, Corinne; Mundy, Helen; Nassogne, Marie Cecile; Quintero, Victor; Rossi, Alessandro; Spenger, Johannes; Spiegel, Ronen; Stephenne, Xavier; Stojkov, Darko; Tal, Galit; Cunha, Maria Veiga-da; Wortmann, Saskia B.

研究方向

暂未获取到该数据
C
Chiara Cazzorla
H 指数:20论文数:66被引数:1,160
V
Vincenza Gragnaniello
H 指数:12论文数:61被引数:501
A
Alessandro P. Burlina
H 指数:42论文数:198被引数:5,972
G
Giulia Polo
H 指数:20论文数:44被引数:1,295
D
Daniela Gueraldi
H 指数:12论文数:62被引数:395
C
Christian Loro
H 指数:6论文数:29被引数:113
A
Anita MacDonald
H 指数:47论文数:352被引数:1.4万
M
Maria Giżewska
H 指数:24论文数:103被引数:3,528
F
François Feillet
H 指数:46论文数:201被引数:8,062
F
Francjan J. van Spronsen
H 指数:53论文数:253被引数:1.0万