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258 results on '"Burlina, Alessandro P"'

4. Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry

Author

Hopkin, 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., Tøndel, Camilla, Wilcox, William R., Yoo, Han-Wook, Burlina, Alessandro P., and Mauer, Michael

Published
2023
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6. Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients.

Author

Burlina, Alessandro P., Manara, Renzo, Carretta, Jessica, Cazzorla, Chiara, Loro, Christian, Gragnaniello, Vincenza, and Burlina, Alberto B.

Subjects
*MAGNETIC resonance imaging, *NEUROPSYCHOLOGICAL tests, *PHENYLALANINE, *WHITE matter (Nerve tissue), *EXECUTIVE function
Abstract

Phenylketonuria, the most common inherited metabolic disease, results from a deficiency of phenylalanine hydroxylase enzyme activity that causes high blood phenylalanine levels. Most adults do not adhere to the gold standard therapy: lifelong treatment with a low‐phenylalanine diet. Elevated and fluctuating phenylalanine levels in untreated adults can cause white matter abnormalities, neurological symptoms, and cognitive dysfunction (executive function). Pegvaliase, a derivative of the phenylalanine ammonia‐lyase enzyme, metabolizes phenylalanine to trans‐cinnamic acid and ammonia, and is approved by the US Food and Drug Administration and European Medicines Agency for subcutaneous administration in adults with phenylketonuria and blood phenylalanine concentrations > 600 μmol/L. In clinical trials, it reduced blood phenylalanine, even in patients consuming an unrestricted diet. We report longitudinal results on the first three such adults, in whom phenylalanine levels were quantified monthly, starting 1 year before pegvaliase administration and continuing through achievement of a pegvaliase response (defined as six consecutive monthly blood phenylalanine concentrations < 360 μmol/L while consuming an unrestricted diet). Brain magnetic resonance imaging (MRI) and neuropsychological assessments were performed before starting therapy and after response was achieved. Our results show that all three patients had significantly reduced white matter hyperintensities on brain MRI and improved executive function on neuropsychological assessment, especially on the Paced Auditory Serial Addition Test, which is known to be very sensitive to white matter functioning. To the best of our knowledge, this is the first report of concomitant improvements in cognitive performance and white matter damage after a pharmacological intervention to normalize phenylalanine levels in adults with phenylketonuria consuming an unrestricted diet. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Opinion, knowledge, and clinical experience with functional neurological disorders among Italian neurologists: results from an online survey

Author

Tinazzi, Michele, Fiorio, Mirta, Berardelli, Alfredo, Bonetti, Bruno, Bonifati, Domenico Marco, Burlina, Alessandro, Cagnin, Annachiara, Calabria, Francesca, Corbetta, Maurizio, Cortelli, Pietro, Giometto, Bruno, Guidoni, Silvia Vittoria, Lopiano, Leonardo, Mancardi, Gianluigi, Marchioretto, Fabio, Pellegrini, Maria, Teatini, Francesco, Tedeschi, Gioacchino, Tesolin, Lucia, Turinese, Emanuele, Zappia, Mario, and Marotta, Angela

Published
2022
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9. Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

Author

Germain, Dominique P, Brand, Eva, Burlina, Alessandro, Cecchi, Franco, Garman, Scott C, Kempf, Judy, Laney, Dawn A, Linhart, Aleš, Maródi, László, Nicholls, Kathy, Ortiz, Alberto, Pieruzzi, Federico, Shankar, Suma P, Waldek, Stephen, Wanner, Christoph, and Jovanovic, Ana

Subjects
Clinical Research, Neurodegenerative, Cardiovascular, Pediatric, Aging, Rare Diseases, Heart Disease, GLA, Fabry disease, cardiac variant, p.Asn215Ser, p.N215S, phenotype, Medicinal and Biomolecular Chemistry, Genetics, Clinical Sciences
Abstract

The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease. To expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 females, 164 males) harboring mutations associated with classic Fabry disease. We evaluated interventricular septum thickness (IVST), left ventricular posterior wall thickness (LVPWT), estimated glomerular filtration rate and severe clinical events. In p.N215S males, mildly abnormal mean IVST and LVPWT values were observed in patients aged 25-34 years, and values gradually increased with advancing age. Mean values were similar to those of classic males. In p.N215S females, these abnormalities occurred primarily in patients aged 55-64 years. Severe clinical events in p.N215S patients were mainly cardiac (males 31%, females 8%) while renal and cerebrovascular events were rare. Renal impairment occurred in 17% of p.N215S males (mostly in patients aged 65-74 years), and rarely in females (3%). p.N215S is a disease-causing mutation with severe clinical manifestations found primarily in the heart. Cardiac involvement may become as severe as in classic Fabry patients, especially in males.

Published
2018

11. Stroke management during the coronavirus disease 2019 (COVID-19) pandemic: experience from three regions of the north east of Italy (Veneto, Friuli-Venezia-Giulia, Trentino-Alto-Adige)

Author

Manganotti, Paolo, Naccarato, Marcello, Scali, Ilario, Cappellari, Manuel, Bonetti, Bruno, Burlina, Alessandro, Turinese, Emanuele, Bogo, Sabrina, Teatini, Francesco, Franchini, Enrica, Caneve, Giorgio, Ruzza, Giampietro, Gaudenzi, Anna, Bombardi, Roberto, Bozzato, Giulio, Padoan, Roberta, Gentile, Carolina, Rana, Michele, Turazzini, Michelangelo, Alessandra, Danese, Brigo, Francesco, Nardone, Raffaele, Quatrale, Rocco, Menegazzo, Elisabetta, Masato, Maela, Novello, Stefano, Passadore, Paolo, Baldi, Antonio, Valentinis, Luca, Baracchini, Claudio, Pieroni, Alessio, Basile, Anna Maria, Semplicini, Claudio, Piffer, Silvio, Giometto, Bruno, Tonello, Simone, Bonifatti, Domenico Marco, Lorenzut, Simone, Merlino, Giovanni, Valente, Maria Rosaria, Paladin, Francesco, Tonon, Agnese, de Luca, Cristina, Perini, Francesco, Centonze, Sandro, and Bovi, Paolo

Published
2021
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17. Acute revascularization treatments for ischemic stroke in the Stroke Units of Triveneto, northeast Italy: time to treatment and functional outcomes

Author

Cappellari, Manuel, Bonetti, Bruno, Forlivesi, Stefano, Sajeva, Giulia, Naccarato, Marcello, Caruso, Paola, Lorenzut, Simone, Merlino, Giovanni, Viaro, Federica, Pieroni, Alessio, Giometto, Bruno, Bignamini, Valeria, Perini, Francesco, De Boni, Antonella, Morra, Michele, Critelli, Adriana, Tamborino, Carmine, Tonello, Simone, Guidoni, Silvia Vittoria, L’Erario, Roberto, Russo, Monia, Burlina, Alessandro, Turinese, Emanuele, Passadore, Paolo, Zanet, Luca, Polo, Alberto, Turazzini, Michelangelo, Basile, Anna Maria, Atzori, Matteo, Marini, Bruno, Bruno, Martina, Carella, Simona, Campagnaro, Alessandro, Baldi, Antonio, Corazza, Elisa, Zanette, Giampietro, Idone, Domenico, Gaudenzi, Anna, Bombardi, Roberto, Cadaldini, Morena, Lanzafame, Salvatore, Ferracci, Franco, Zambito, Sandro, Ruzza, Giampietro, Simonetto, Marco, Menegazzo, Elisabetta, Masato, Maela, Padoan, Roberta, Bozzato, Giulio, Paladin, Francesco, Tonon, Agnese, and Bovi, Paolo

Published
2021
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19. Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

Author

Gragnaniello, Vincenza, primary, Cazzorla, Chiara, additional, Gueraldi, Daniela, additional, Puma, Andrea, additional, Loro, Christian, additional, Porcù, Elena, additional, Stornaiuolo, Maria, additional, Miglioranza, Paolo, additional, Salviati, Leonardo, additional, Burlina, Alessandro P., additional, and Burlina, Alberto B., additional

Published
2023
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20. Eye Disorders

Author

Burlina, Alberto, Celato, Andrea, Burlina, Alessandro P., Hoffmann, Georg F., editor, Zschocke, Johannes, editor, and Nyhan, William L., editor

Published
2017
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23. Intravenous thrombolysis for ischemic stroke in the Veneto region: the gap between eligibility and reality

Author

Forlivesi, Stefano, Cappellari, Manuel, Baracchini, Claudio, Viaro, Federica, Critelli, Adriana, Tamborino, Carmine, Tonello, Simone, Guidoni, Silvia Vittoria, Bruno, Martina, Favaretto, Silvia, Burlina, Alessandro, Turinese, Emanuele, Ferracci, Franco, Zambito Marsala, Sandro, Bazzano, Salvatrice, Orlando, Federica, Turazzini, Michelangelo, Ricci, Silvia, Cadaldini, Morena, De Biasia, Floriana, Bruno, Sandro, Gaudenzi, Anna, Morra, Michele, Danese, Alessandra, L’Erario, Roberto, Russo, Monia, Zanette, Giampietro, Idone, Domenico, Basile, Anna Maria, Atzori, Matteo, Masato, Maela, Menegazzo, Elisabetta, Paladin, Francesco, Tonon, Agnese, Caneve, Giorgio, Bozzato, Giulio, Campagnaro, Alessandro, Carella, Simona, Nicolao, Piero, Padoan, Roberta, Perini, Francesco, De Boni, Antonella, Adami, Alessandro, Bonetti, Bruno, and Bovi, Paolo

Published
2019
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26. Inborn Errors of Metabolism

Author

Burlina, Alberto, Celato, Andrea, Burlina, Alessandro P., Sghirlanzoni, Angelo, editor, Lauria, Giuseppe, editor, and Chiapparini, Luisa, editor

Published
2015
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29. Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage

Author

Linthorst, Gabor E., Burlina, Alessandro P., Cecchi, Franco, Cox, Timothy M., Fletcher, Janice M., Feldt-Rasmussen, Ulla, Giugliani, Roberto, Hollak, Carla E. M., Houge, Gunnar, Hughes, Derralynn, Kantola, Iikka, Lachmann, Robin, Lopez, Monica, Ortiz, Alberto, Parini, Rossella, Rivera, Alberto, Rolfs, Arndt, Ramaswami, Uma, Svarstad, Einar, Tondel, Camilla, Tylki-Szymanska, Anna, Vujkovac, Bojan, Waldek, Steven, West, Michael, Weidemann, F., Mehta, Atul, Zschocke, Johannes, editor, Gibson, K Michael, editor, Brown, Garry, editor, Morava, Eva, editor, and Peters, Verena, editor

Published
2013
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30. Eye Disorders

Author

Burlina, Alberto, Burlina, Alessandro P., Hoffmann, Georg F., editor, Zschocke, Johannes, editor, and Nyhan, William L., editor

Published
2010
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31. N-Acetylaspartylglutamate (NAAG) in Pelizaeusmerzbacher Disease

Author

Clinical European Network on Brain Dysmyelinating Disease (ENBDD), Burlina, Alessandro P., Ferrari, Vanni, Burlina, Alberto B., Ermani, Mario, Boespflug-Tanguy, Odile, Bertini, Enrico, Back, Nathan, editor, Cohen, Irun R., editor, Kritchevsky, David, editor, Lajtha, Abel, editor, Paoletti, Rodolfo, editor, Moffett, John R., editor, Tieman, Suzannah B., editor, Weinberger, Daniel R., editor, Coyle, Joseph T., editor, and Namboodiri, Aryan M. A., editor

Published
2006
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32. Hypoacetylaspartia: Clinical and Biochemical Follow-Up of a Patient

Author

Burlina, Alessandro P., Schmitt, B., Engelke, U., Wevers, Ron A., Burlina, Alberto B., Boltshauser, Eugen, Back, Nathan, editor, Cohen, Irun R., editor, Kritchevsky, David, editor, Lajtha, Abel, editor, Paoletti, Rodolfo, editor, Moffett, John R., editor, Tieman, Suzannah B., editor, Weinberger, Daniel R., editor, Coyle, Joseph T., editor, and Namboodiri, Aryan M. A., editor

Published
2006
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36. Eye Disorders

Author

Burlina, Alberto, primary, Celato, Andrea, additional, and Burlina, Alessandro P., additional

Published
2016
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41. Diagnosis and management of glutaric aciduria type I – revised recommendations

Author

Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., and Burgard, Peter

Published
2011
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46. Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage

Author

Linthorst, Gabor E., primary, Burlina, Alessandro P., additional, Cecchi, Franco, additional, Cox, Timothy M., additional, Fletcher, Janice M., additional, Feldt-Rasmussen, Ulla, additional, Giugliani, Roberto, additional, Hollak, Carla E. M., additional, Houge, Gunnar, additional, Hughes, Derralynn, additional, Kantola, Iikka, additional, Lachmann, Robin, additional, Lopez, Monica, additional, Ortiz, Alberto, additional, Parini, Rossella, additional, Rivera, Alberto, additional, Rolfs, Arndt, additional, Ramaswami, Uma, additional, Svarstad, Einar, additional, Tondel, Camilla, additional, Tylki-Szymanska, Anna, additional, Vujkovac, Bojan, additional, Waldek, Steven, additional, West, Michael, additional, Weidemann, F., additional, and Mehta, Atul, additional

Published
2012
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48. Fabry disease and COVID-19: International expert recommendations for management based on real-world experience

Author

Laney, Dawn A., primary, Germain, Dominique P., additional, Oliveira, João Paulo, additional, Burlina, Alessandro P., additional, Cabrera, Gustavo H., additional, Hong, Geu-Ru, additional, Hopkin, Robert J., additional, Niu, Dau-Ming, additional, Thomas, Mark, additional, Trimarchi, Hernán, additional, Wilcox, William R., additional, Politei, Juan M., additional, and Ortiz, Alberto, additional

Published
2021
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49. Fabry disease and COVID-19: international expert recommendations for management based on real-world experience

Author

Laney, Dawn A, primary, Germain, Dominique P, additional, Oliveira, João Paulo, additional, Burlina, Alessandro P, additional, Cabrera, Gustavo Horacio, additional, Hong, Geu-Ru, additional, Hopkin, Robert J, additional, Niu, Dau-Ming, additional, Thomas, Mark, additional, Trimarchi, Hernán, additional, Wilcox, William R, additional, Politei, Juan Manuel, additional, and Ortiz, Alberto, additional

Published
2020
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