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A

Alberto Burlina

University Hospital of Padua

63H指数
366论文数
1.6W被引数
收录论文 132
发表时间
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Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience
errInternational Journal of Neonatal Screening
IF4
err2026-07-27
err0
errOAAI
errVincenza Gragnaniello; Giacomo Gaiga; Chiara Cazzorla; Elena Porcù; Daniela Gueraldi; Andrea Puma; Christian Loro; Mara Doimo; Leonardo Salviati; Alberto B. Burlina
err分享
err收藏
Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practicemaple syrup urine disease急性代谢失代偿的管理：基于国际临床实践的指南
errOrphanet Journal of Rare Diseases
IF3.5
err2026-06-06
err0
errOAAI
errAude Servais; Marie Therese Abi-Wardé; Jean-Baptiste Arnoux; Alberto Burlina; Francois Feillet; Vincenzo Giordano; Nicola Longo; Sufin Yap
err分享
err收藏
DNAJC12 DiseaseDNAJC12疾病
errNeurology-Genetics
IF3.7
err2026-02-01
err0
PREAI
errManti, 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
err分享
err收藏
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
errGenetics in Medicine
IF6.2
err2026-01-12
err0
errOAAI
errFrancjan 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
err分享
err收藏
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（PKU）的前1000天：基于阳性新生儿筛查的母亲PKU及早期生活管理的叙事综述
errNutrients
IF5
err2026-01-09
err0
errOAAI
errElvira Verduci; Martina Tosi; Juri Zuvadelli; Sara Giorda; Giacomo Biasucci; Vincenzo Leuzzi; Marco Spada; Alberto Burlina
err分享
err收藏
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural VariantDDOST-先天性糖基化障碍：界定临床谱系及首次报道结构变异
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-12-01
err0
PREAI
errReynolds, Giuseppe; Carelli, Ilaria; Rondot, Federico; Massuras, Stefania; Pagliardini, Veronica; Gragnaniello, Vincenza; Burlina, Alberto B.; Resciniti, Sara; Agata, Simona; Colavito, Davide; Mussa, Alessandro
err分享
err收藏
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
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 86
IF4
err2025-09-29
err0
errOAAI
errMargherita Ruoppolo; Cristina Cereda; Teresa Giovanniello; Sabrina Malvagia; Sara Boenzi; Francesca Teofoli; on behalf of the SIMMESN Italian Newborn Screening Group; Alberto Burlina
err分享
err收藏
A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)对一名合并丙戊酸和甲基丙二酸尿症（CMAMMA）患者的深入临床与生化特征分析
errJIMD REPORTS
IF1.8
err2025-09-28
err0
errOAAI
errGragnaniello, Vincenza; Galderisi, Alfonso; Tucci, Sara; Doimo, Mara; Caterino, Marianna; Loro, Christian; Cazzorla, Chiara; Ruoppolo, Margherita; Salviati, Leonardo; Burlina, Alberto B.
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
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
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-05-22
err0
errOAAI
errRossi, 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
err分享
err收藏
Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails基于神经放射学发现的戊二酸尿症I型诊断：当新生儿筛查失败时
errITALIAN JOURNAL OF PEDIATRICS
IF3.1
err2025-05-13
err0
errOAAI
errGragnaniello, Vincenza; Puma, Andrea; Gueraldi, Daniela; D'Errico, Ignazio; Cazzorla, Chiara; Loro, Christian; Porcu, Elena; Salviati, Leonardo; Burlina, Alberto B.
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
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
Continuous glucose monitoring in patients with inherited metabolic disorders at risk for Hypoglycemia and Nutritional implications
errREVIEWS IN ENDOCRINE & METABOLIC DISORDERS
IF8
err2024-10-01
err0
errOAAI
errGugelmo, Giorgia; Maines, Evelina; Boscari, Federico; Lenzini, Livia; Fadini, Gian Paolo; Burlina, Alberto; Avogaro, Angelo; Vitturi, Nicola
err分享
err收藏
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity
errNUTRIENTS
IF5
err2024-08-31
err0
errOAAI
errPinto, 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
err分享
err收藏
Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2024-07-23
err0
errOAAI
errPintus, Giovanni; Vitturi, Nicola; Carraro, Gianni; Lenzini, Livia; Gugelmo, Giorgia; Fasan, Ilaria; Madinelli, Alberto; Burlina, Alberto; Avogaro, Angelo; Calo, Lorenzo Arcangelo
err分享
err收藏
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？
errNUTRIENTS
IF5
err2024-06-28
err1
errOAAI
errPinto, 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
err分享
err收藏
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
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-06-01
err1
errOAAI
errGruenert, 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.
err分享
err收藏

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