BURLINA, ALBERTO
BURLINA, ALBERTO
Dipartimento di Salute della Donna e del Bambino - SDB
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy
2024 Fiumara, A.; Sapuppo, A.; Gasperini, S.; Crescitelli, V.; Sacchini, M.; Procopio, E.; Gragnaniello, V.; Burlina, A.
Continuous glucose monitoring in patients with inherited metabolic disorders at risk for Hypoglycemia and Nutritional implications
2024 Gugelmo, Giorgia; Maines, Evelina; Boscari, Federico; Lenzini, Livia; Fadini, Gian Paolo; Burlina, Alberto; Avogaro, Angelo; Vitturi, Nicola
Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review
2024 Pintus, Giovanni; Vitturi, Nicola; Carraro, Gianni; Lenzini, Livia; Gugelmo, Giorgia; Fasan, Ilaria; Madinelli, Alberto; Burlina, Alberto; Avogaro, Angelo; Calò, Lorenzo Arcangelo
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
2024 Parenti, G.; Fecarotta, S.; Alagia, M.; Attaianese, F.; Verde, A.; Tarallo, A.; Gragnaniello, V.; Ziagaki, A.; Guimaraes, M. J.; Aguiar, P.; Hahn, A.; Azevedo, O.; Donati, M. A.; Kiec-Wilk, B.; Scarpa, M.; Van Der Beek, N. A. M. E.; Del Toro Riera, M.; Germain, D. P.; Huidekoper, H.; Van Den Hout, J. M. P.; Van Der Ploeg, A. T.; Zeman, J.; Witters, P.; Weinhold, N.; Vijay, S.; Van Hasselt, P. M.; Ullrich, K.; Tournev, I.; Salviati, A.; Rutsch, F.; Roland, D.; Rokicki, D.; Rodrigues, E.; Pfliegler, G.; Miclea, D.; Martins, E.; Martin-Hernandez, E.; Komninaka, V.; Kingma, S.; Jones, S.; Hiwot, T. G.; Hennermann, J.; Guffon-Fouilhoux, N.; Grosso, S.; Lopez, A. G. -M.; Gasperini, S.; Gaspar, A. M.; Ferreira, A.; Eyskens, F.; Dobbelaere, D.; Di Rocco, M.; De Las Heras Montero, J.; De Abreu Freire Diogo Matos, L. M.; Deegan, P.; Debray, F. G.; Das, A. M.; Darin, N.; Couce-Pico, M. L.; Chronopoulou, E.; Chabrol, B.; Cassiman, D.; Burlina, A.; Brassier, A.; Bosch, A. M.; Bordugo, A.; Belmatoug, N.; Batzios, S.; Baric, I.
Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy
2024 Porta, F.; Maiorana, A.; Gragnaniello, V.; Procopio, E.; Gasperini, S.; Taurisano, R.; Spada, M.; Dionisi-Vici, C.; Burlina, A.
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
2023 Gragnaniello, V.; Gueraldi, D.; Puma, A.; Commone, A.; Cazzorla, C.; Loro, C.; Porcu, E.; Stornaiuolo, M.; Miglioranza, P.; Salviati, L.; Wanders, R. J. A.; Burlina, A.
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus
2023 Scarpa, M.; Barbato, A.; Bisconti, A.; Burlina, A.; Concolino, D.; Deodato, F.; Di Rocco, M.; Dionisi-Vici, C.; Donati, M. A.; Fecarotta, S.; Fiumara, A.; Galeone, C.; Giona, F.; Giuffrida, G.; Manna, R.; Mariani, P.; Pession, A.; Scopinaro, A.; Spada, M.; Spandonaro, F.; Trifiro, G.; Carubbi, F.; Cappellini, M. D.
Pilot study of newborn screening for six lysosomal diseases in Brazil
2023 Kubaski, Francyne; Sousa, Ines; Amorim, Tatiana; Pereira, Danilo; Silva, Camilo; Chaves, Vitor; Brusius-Facchin, Ana Carolina; Netto, Alice B. O.; Soares, Juliano; Vairo, Filippo; Poletto, Edina; Trometer, Joe; Souza, Alexandre; Ranieri, Enzo; Polo, Giulia; Hong, Xinying; Herbst, Zackary M.; Burlina, Alberto; Gelb, Michael H.; Giugliani, Roberto
Seroprevalence of SARS-CoV-2 antibodies in Italy in newborn dried blood spots
2023 Galla, Luisa; Cosma, Chiara; Bertan, Michela; Altinier, Sara; Zaninotto, Martina; Basso, Daniela; Burlina, Alberto; Padoan, Andrea; Plebani, Mario
Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation
2023 Maines, E.; Moretti, M.; Vitturi, N.; Gugelmo, G.; Fasan, I.; Lenzini, L.; Piccoli, G.; Gragnaniello, V.; Maiorana, A.; Soffiati, M.; Burlina, A.; Franceschi, R.
A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature
2022 Gragnaniello, Vincenza; Carraro, Silvia; Rubert, Laura; Gueraldi, Daniela; Cazzorla, Chiara; Massa, Pamela; Zanconato, Stefania; Burlina, Alberto
Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques
2022 Martino, M.; Sartorelli, J.; Gragnaniello, V.; Burlina, A.
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
2022 Ruoppolo, M.; Malvagia, S.; Boenzi, S.; Carducci, C.; Dionisi-Vici, C.; Teofoli, F.; Burlina, A.; Angeloni, A.; Aronica, T.; Bordugo, A.; Bucci, I.; Camilot, M.; Carbone, M. T.; Cardinali, R.; Carducci, C.; Cassanello, M.; Castana, C.; Cazzorla, C.; Ciatti, R.; Ferrari, S.; Frisso, G.; Funghini, S.; Furlan, F.; Gasperini, S.; Gragnaniello, V.; Guzzetti, C.; La Marca, G.; La Spina, L.; Lore, T.; Meli, C.; Messina, M.; Morrone, A.; Nardecchia, F.; Ortolano, R.; Parenti, G.; Pavanello, E.; Pieragostino, D.; Pillai, S.; Porta, F.; Righetti, F.; Rossi, C.; Rovelli, V.; Salina, A.; Santoro, L.; Sauro, P.; Schiaffino, M. C.; Simonetti, S.; Vincenzi, M.; Tarsi, E.; Uccheddu, A. P.
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
2022 Gragnaniello, V.; Deodato, F.; Gasperini, S.; Donati, M. A.; Canessa, C.; Fecarotta, S.; Pascarella, A.; Spadaro, G.; Concolino, D.; Burlina, A.; Parenti, G.; Strisciuglio, P.; Fiumara, A.; Casa, R. D.
Delphi panel experts’ group; Spagnoli C. Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus
2021 Fusco, C; Leuzzi, V; Striano, P; Battini, R; Burlina, Alberto
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience
2021 Burlina, Alberto; Giuliani, A; Polo, G; Gueraldi, D; Gragnaniello, V; Cazzorla, C; Opladen, T; Hoffmann, G; Blau, N; Burlina, Ap.
Italian national consensus statement on management and pharmacological treatment of phenylketonuria.
2021 Burlina, A; Biasucci, G; Carbone, Mt; Cazzorla, C; Paci, S; Pochiero, F; Spada, M; Tummolo, A; Zuvadelli, J; Leuzzi, V.
Mucopolysaccharidosis type VII diagnosed from a peripheral blood smear
2021 Pelloso, M.; Zuin, S.; Tosato, F.; Zuin, J.; Fogar, P.; Piva, E.; Burlina, A.; Plebani, M.
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience
2021 Gragnaniello, V; Burlina, Ap; Polo, G; Giuliani, A; Salviati, L; Duro, G; Cazzorla, C; Rubert, L; Maines, E; Germain, Dp; Burlina, Alberto
Phenylketonuria
2021 van Spronsen, Fj; Blau, N; Harding, C; Burlina, Alberto; Longo, N; Bosch, Am.